Prof. C.E.M. Hollak PhD publications

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Publications Prof. PhD C.E.M. Hollak

Position
Full Professor
Main activities
Patient care, Research, Other
Specialisation
Inherited Metabolic Diseases
Focus of research

Natural history, pathophysiology and treatment of lysosomal storage disorders

2021

  • Sirrs Sandra M., Arthus Marie-Francoise, Bichet Daniel G., Rockman-Greenberg Cheryl, LeMoine Kaye, Morel Chantal F., Lachmann Robin, Lynd Larry D., Wasim Syed, West Michael L., Hollak Carla Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products Value in health 2021;24 (2):268-273 [PubMed]

2020

  • Eskes Eline C. B., Sjouke Barbara, Vaz Frédéric M., Goorden Susan M. I., van Kuilenburg André B. P., Aerts Johannes M. F. G., Hollak Carla E. M. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers Molecular genetics and metabolism 2020;130 (1):16-26 [PubMed]
  • Lubout C M A, Blanco F Arrieta, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee J H, Maillot F, Stepien K M, Wagenmakers M A E M, Welsink-Karssies M M, van Spronsen F J, Bosch A M Bone mineral density is within normal range in most adult phenylketonuria patients Journal of inherited metabolic disease 2020;43 (2):251-258 [PubMed]
  • Welsink-Karssies Mendy M., Oostrom Kim J., Hermans Merel E., Hollak Carla E. M., Janssen Mirian C. H., Langendonk Janneke G., Oussoren Esmee, Gozalbo M. Estela Rubio, de Vries Maaike, Geurtsen Gert J., Bosch Annet M. Classical galactosemia: Neuropsychological and psychosocial functioning beyond intellectual abilities Orphanet journal of rare diseases 2020;15 (1) [PubMed]
  • Körver Simon, Geurtsen Gert J., Hollak Carla E. M., van Schaik Ivo N., Longo Maria G. F., Lima Marjana R., Dijkgraaf Marcel G. W., Langeveld Mirjam Cognitive functioning and depressive symptoms in Fabry disease: a follow-up study Journal of inherited metabolic disease 2020;43 (5):1070-1081 [PubMed]
  • Postema Pieter G., Schwartz Peter J., Arbelo Elena, Bannenberg Wilbert J., Behr Elijah R., Belhassen Bernard, Brugada Josep, Brugada Pedro, John Camm A., Casado-Arroyo Ruben, 't Hoen Ellen, Hollak Carla E. M., Kääb Stefan, Lambiase Pier D., Leenhardt Antoine, Priori Silvia G., Probst Vincent, Stunnenberg Bas C., Tfelt-Hansen Jacob, van Engelen Baziel G. M., Veltmann Christian, Viskin Sami, Wilde Arthur A. M. Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine European heart journal 2020;41 (5):614-617 [PubMed]
  • Welsink-Karssies Mendy M., Ferdinandusse Sacha, Geurtsen Gert J., Hollak Carolina E. M., Huidekoper Hidde H., Janssen Mirian C. H., Langendonk Janneke G., van der Lee Hanneke H., O'Flaherty Roisin, Oostrom Kim J., Roosendaal Stefan D., Rubio-Gozalbo M. Estela, Saldova Radka, Treacy Eileen P., Vaz Fred M., de Vries Maaike C., Engelen Marc, Bosch Antonette M. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers Brain Communications 2020;2 (1) [PubMed]
  • Körver Simon, Geurtsen Gert J., Hollak Carla E. M., van Schaik Ivo N., Longo Maria G. F., Lima Marjana R., Vedolin Leonardo, Dijkgraaf Marcel G. W., Langeveld Mirjam Depressive symptoms in Fabry disease: The importance of coping, subjective health perception and pain Orphanet journal of rare diseases 2020;15 (1) [PubMed]
  • Körver Simon, Longo Maria G. F., Lima Marjana R., Hollak Carla E. M., el Sayed Mohamed, van Schaik Ivo N., Vedolin Leonardo, Dijkgraaf Marcel G. W., Langeveld Mirjam Determinants of cerebral radiological progression in Fabry disease Journal of neurology, neurosurgery, and psychiatry 2020;91 (7):756-763 [PubMed]
  • van der Veen Sanne J., Hollak Carla E. M., van Kuilenburg André B. P., Langeveld Mirjam Developments in the treatment of Fabry disease Journal of inherited metabolic disease 2020;43 (5):908-921 [PubMed]
  • Welsink-Karssies Mendy M., Oostrom Kim J., Hermans Merel E., Hollak Carla E. M., Janssen Mirian C. H., Langendonk Janneke G., Oussoren Esmee, Rubio Gozalbo M. Estela, de Vries Maaike, Geurtsen Gert J., Bosch Annet M. Erratum: Classical galactosemia: Neuropsychological and psychosocial functioning beyond intellectual abilities (Orphanet Journal of Rare Diseases (2020) 15 (42) DOI: 10.1186/s13023-019-1277-0) Orphanet journal of rare diseases 2020;15 (1):238 [PubMed]
  • Korver Simon Fabry and the brain: Incorporating patients’ illness perceptions into the physicians’ practice 2020. 305p. ISBN 9789463757164. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Hollak Carolina E. M., van Schaik Ivo N.; Co-supervisors: Langeveld Mirjam, Geurtsen Gert J.)
  • Welsink-Karssies Mendy M., Schrantee Anouk, Caan Matthan W. A., Hollak Carla E. M., Janssen Mirian C. H., Oussoren Esmee, de Vries Maaike C., Roosendaal Stefan D., Engelen Marc, Bosch Annet M. Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome Molecular genetics and metabolism 2020;131 (4):370-379 [PubMed]
  • Simons Nynke, Debray François-Guillaume, Schaper Nicolaas C., Feskens Edith J. M., Hollak Carla E. M., Bons Judith A. P., Bierau J. rgen, Houben Alfons J. H. M., Schalkwijk Casper G., Stehouwer Coen D. A., Cassiman David, Brouwers Martijn C. G. J. Kidney and vascular function in adult patients with hereditary fructose intolerance Molecular genetics and metabolism reports 2020;23 [PubMed]
  • Timmer Corrie, Goorden Susan M. I., Coene Karlien L. M., ten Hoedt Amber E., Kluijtmans Leo A. J., Janssen Mirian C. H., Rennings Alexander, Prinsen Hubertus C. M. T., Wamelink Mirjam M. C., Ruijter George J. G., Körver-Keularts Irene, Heiner-Fokkema M. Rebecca, van Spronsen Francjan J., Hollak Carolina E. M., Vaz Fred M., Bosch Antonette M., Huigen Marleen C. D. G. Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation JIMD reports 2020;43 (6):1143
  • van der Veen Sanne J., Vlietstra Wytze J., van Dussen Laura, van Kuilenburg André B. P., Dijkgraaf Marcel G. W., Lenders Malte, Brand Eva, Wanner Christoph, Hughes Derralynn, Elliott Perry M., Hollak Carla E. M., Langeveld Mirjam Predicting the development of anti-drug antibodies against recombinant alpha-galactosidase a in male patients with classical fabry disease International journal of molecular sciences 2020;21 (16):1-14 [PubMed]
  • Hollak Carla E. M., Sirrs Sandra, van den Berg Sibren, van der Wel Vincent, Langeveld Mirjam, Dekker Hanka, Lachmann Robin, de Visser Saco J. Registries for orphan drugs: generating evidence or marketing tools? Orphanet journal of rare diseases 2020;15 (1):235 [PubMed]
  • Welsink-Karssies M. M., van Weeghel M., Hollak C. E. M., Elfrink H. L., Janssen M. C. H., Lai K., Langendonk J. G., Oussoren E., Ruiter J. P. N., Treacy E. P., de Vries M., Ferdinandusse S., Bosch A. M. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes Molecular genetics and metabolism 2020;129 (3):171-176 [PubMed]

2019

  • van der Veen S. J., van Kuilenburg A. B. P., Hollak C. E. M., Kaijen P. H. P., Voorberg J., Langeveld M. Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment Molecular genetics and metabolism 2019;126 (2):162-168 [PubMed]
  • van Son J, Rietbroek R C, Vaz F M, Hollak C E M Bizarre behavior and decreased level of consciousness in an adult patient Netherlands journal of medicine 2019;77 (1):25-28 [PubMed]
  • Schuller Yvonne, Gispen-de Wied Christine, Hollak Carla E. M., Leufkens Hubertus G. M., Stoyanova-Beninska Violeta Dose-Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis Journal of clinical pharmacology 2019;59 (2):229-244 [PubMed]
  • Kuiper Gé-Ann, Nijmeijer Stephanie C. M., Roelofs Manouck J. M., van der Lee Johanneke H., Hollak Carla E. M., Bosch Annet M. Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I Journal of inherited metabolic disease 2019;42 (5):762-775 [PubMed]
  • Aldosari Mohammed H., de Vries Robert P., Rodriguez Lucia R., Hesen Nienke A., Beztsinna Nataliia, van Kuilenburg André B. P., Hollak Carla E. M., Schellekens Huub, Mastrobattista Enrico Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation European journal of pharmaceutics and biopharmaceutics 2019;137:185-195 [PubMed]
  • van Ginkel Willem G., Rodenburg Iris L., Harding Cary O., Hollak Carla E. M., Heiner-Fokkema M. Rebecca, van Spronsen Francjan J. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 Paediatric drugs 2019;21 (6):413-426 [PubMed]
  • Stelten Bianca M L, Huidekoper Hidde H, van de Warrenburg Bart P C, Brilstra Eva H, Hollak Carla E M, Haak Harm R, Kluijtmans Leo A J, Wevers Ron A, Verrips Aad Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start Neurology 2019;92 (2):e83-e95 [PubMed]
  • Simons Nynke, Debray François-Guillaume, Schaper Nicolaas C., Kooi M. Eline, Feskens Edith J. M., Hollak Carla E. M., Lindeboom Lucas, Koek Ger H., Bons Judith A. P., Lefeber Dirk J., Hodson Leanne, Schalkwijk Casper G., Stehouwer Coen D. A., Cassiman David, Brouwers Martijn C. G. J. Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content Journal of clinical endocrinology and metabolism 2019;104 (11):5056-5064 [PubMed]
  • Körver Simon, Geurtsen Gert J., Hollak Carla E. M., van Schaik Ivo N., Longo Maria G. F., Lima Marjana R., Vedolin Leonardo, Dijkgraaf Marcel G. W., Langeveld Mirjam Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease Scientific reports 2019;9 (1) [PubMed]
  • Preuss Klaus-Dieter, Hollak Carla E. M., Fadle Natalie, van Oers Marinus, Regitz Evi, Pfreundschuh Michael Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma British journal of haematology 2019;184 (3):384-391 [PubMed]
  • Welsink-Karssies Mendy M., van Harskamp Dewi, Ferdinandusse Sacha, Hollak Carla E. M., Huidekoper Hidde H., Janssen Mirian C. H., Kemper E. Marleen, Langendonk Janneke G., Rubio-Gozalbo M. Estela, de Vries Maaike C., Wijburg Frits A., Schierbeek Henk, Bosch Annet M. The 1-13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes Journal of inherited metabolic disease 2019 [PubMed]
  • Körver Simon, van de Schraaf Sara A J, Geurtsen Gert J, Hollak Carla E M, van Schaik Ivo N, Langeveld Mirjam The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease JIMD reports 2019;48 (1):53-59 [PubMed]
  • Welling Lindsey, Meester-Delver Anke, Derks Terry G., Janssen Mirian C. H., Hollak Carla E. M., de Vries Maaike, Bosch Annet M. The need for additional care in patients with classical galactosaemia Disability and rehabilitation 2019;41 (22):2663-2668 [PubMed]
  • Linthorst Gabor E., Hollak Carla E. M. ‘Whole exome sequencing’ en ‘whole genome sequencing’ bij ziekte zonder diagnose Nederlands tijdschrift voor geneeskunde 2019;163 [PubMed]

2018

  • Schuller Yvonne, Arends Maarten, Körver Simon, Langeveld Mirjam, Hollak Carla E. M. Adaptive pathway development for Fabry disease: a clinical approach Drug discovery today 2018;23 (6):1251-1257 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Wanner Christoph, Sirrs Sandra, Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Bichet Daniel G., Khan Aneal, Iwanochko Mark, Vaz Frédéric M., van Kuilenburg André B. P., West Michael L., Hughes Derralynn A., Hollak Carla E. M. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study Journal of medical genetics 2018;55:351-358 [PubMed]
  • Langeveld M., Hollak C. E. M. Bone health in patients with inborn errors of metabolism Reviews in endocrine & metabolic disorders 2018;19 (1):81-92 [PubMed]
  • van Vliet Danique, van Wegberg Annemiek M. J., Ahring Kirsten, Bik-Multanowski Miroslaw, Blau Nenad, Bulut Fatma D., Casas Kari, Didycz Bozena, Djordjevic Maja, Federico Antonio, Feillet François, Gizewska Maria, Gramer Gwendolyn, Hertecant Jozef L., Hollak Carla E. M., Jørgensen Jens V., Karall Daniela, Landau Yuval, Leuzzi Vincenzo, Mathisen Per, Moseley Kathryn, Mungan Neslihan Ö., Nardecchia Francesca, Õunap Katrin, Powell Kimberly K., Ramachandran Radha, Rutsch Frank, Setoodeh Aria, Stojiljkovic Maja, Trefz Fritz K., Usurelu Natalia, Wilson Callum, van Karnebeek Clara D., Hanley William B., van Spronsen Francjan J. Can untreated PKU patients escape from intellectual disability? A systematic review Orphanet journal of rare diseases 2018;13 (1) [PubMed]
  • Langeveld Mirjam, Elstein Deborah, Szer Jeff, Hollak Carla E. M., Zimran Ari Classifying the additional morbidities of Gaucher disease Blood cells, molecules & diseases 2018;68:209-210 [PubMed]
  • Körver Simon, Vergouwe Magda, Hollak Carla E. M., van Schaik Ivo N., Langeveld Mirjam Development and clinical consequences of white matter lesions in Fabry disease: a systematic review Molecular genetics and metabolism 2018;125 (3):205-216 [PubMed]
  • Shemesh Elad, Deroma Laura, Hendriksz Christian J., Hollak Carla, Krishan Ashma Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome) Cochrane database of systematic reviews (Online) 2018;2018 (3)
  • Regenboog Martine, van Dussen Laura, Verheij Joanne, Weinreb Neal J., Santosa David, vom Dahl Stephan, Häussinger Dieter, Müller Meike N., Canbay Ali, Rigoldi Miriam, Piperno Alberto, Dinur Tama, Zimran Ari, Mistry Pramod K., Salah Karima Yousfi, Belmatoug Nadia, Kuter David J., Hollak Carla E. M. Hepatocellular carcinoma in Gaucher disease: an international case series Journal of inherited metabolic disease 2018;41 (5):819-827 [PubMed]
  • Zimran Ari, Dinur Tama, Revel-Vilk Shoshana, Akkerman Eric M., van Dussen Laura, Hollak Carla E. M., Maayan Hannah, Altarescu Gheona, Chertkoff Raul, Maas Mario Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa Journal of inherited metabolic disease 2018;41 (6):1259-1265 [PubMed]
  • Regenboog Martine Ironing out pathophysiological aspects of Gaucher disease 2018. ISBN 9789402811018. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Hollak C. E. M., Stoker J.; Co-supervisors: Bohte A. E., Akkerman E. M.)
  • Biegstraaten M., Cox T. M., Belmatoug N., Berger M. G., Collin-Histed T., vom Dahl S., Di Rocco M., Fraga C., Giona F., Giraldo P., Hasanhodzic M., Hughes D. A., Iversen P. O., Kiewiet A. I., Lukina E., Machaczka M., Marinakis T., Mengel E., Pastores G. M., Plöckinger U., Rosenbaum H., Serratrice C., Symeonidis A., Szer J., Timmerman J., Tylki-Szymańska A., Weisz Hubshman M., Zafeiriou D. I., Zimran A., Hollak C. E. M. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease Blood cells, molecules & diseases 2018;68:203-208 [PubMed]
  • Schuller Yvonne Mind the Gap: Bridging the difference between efficacy and effectiveness of orphan drugs 2018. ISBN 9789402810547. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Hollak C. E.; Co-supervisors: Biegstraaten M., Stoyanova-Beninska V. V.)
  • Oussoren Esmee, van Eerd David, Murphy Elaine, Lachmann Robin, van der Meijden Jan C., Hoefsloot Lies H., Verdijk Rob, Ruijter George J. G., Maas Mario, Hollak Carla E. M., Langendonk Janneke G., van der Ploeg Ans T., Langeveld Mirjam Mucolipidosis type III, a series of adult patients Journal of inherited metabolic disease 2018;41 (5):839-848 [PubMed]
  • Schuller Yvonne, Biegstraaten Marieke, Hollak Carla E. M., Klümpen Heinz-Josef, Gispen-de Wied Christine C., Stoyanova-Beninska Violeta Oncologic orphan drugs approved in the EU - Do clinical trial data correspond with real-world effectiveness? Orphanet journal of rare diseases 2018;13 (1) [PubMed]
  • Luzzatto Lucio, Hyry Hanna I., Schieppati Arrigo, Costa Enrico, Simoens Steven, Schaefer Franz, Roos Jonathan C. P., Merlini Giampaolo, Kääriäinen Helena, Garattini Silvio, Hollak Carla E., Remuzzi Giuseppe, Barbui Tiziano, Benigni Ariela, Costa Enrico, Daina Erica, Garattini Silvio, Gramaglia Donatella, Hollak Carla E. M., Hyry Hanna, Kaarinen Helena, Licht Christoph, Luzzatto Lucio, Merlini Giampaolo, Notaro Rosario, Remuzzi Giuseppe, Schaefer Franz, Schieppati Arrigo, Simoens Steven Outrageous prices of orphan drugs: a call for collaboration Lancet 2018;392 (10149):791-794 [PubMed]
  • Arends Maarten, Körver Simon, Hughes Derralynn A., Mehta Atul, Hollak Carla E. M., Biegstraaten Marieke Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study Journal of inherited metabolic disease 2018;41 (1):141-149 [PubMed]
  • Voorink-Moret M., Goorden S. M. I., van Kuilenburg A. B. P., Wijburg F. A., Ghauharali-van der Vlugt J. M. M., Beers-Stet F. S., Zoetekouw A., Kulik W., Hollak C. E. M., Vaz F. M. Rapid screening for lipid storage disorders using biochemical markers Expert center data and review of the literature Molecular genetics and metabolism 2018;123 (2):76-84 [PubMed]
  • Demirdas Serwet, van Spronsen Francjan J., Hollak Carla E. M., van der Lee J. Hanneke, Bisschop Peter H., Vaz Fred M., ter Horst Nienke M., Rubio-Gozalbo M. Estela, Bosch Annet M. Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria" Annals of nutrition & metabolism 2018;72 (1):80-81 [PubMed]
  • van Rappard Diane F., de Vries Annelou L. C., Oostrom Kim J., Boelens Jaap Jan, Hollak Carla E. M., van der Knaap Marjo S., Wolf Nicole I. Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy Journal of the American Academy of Child and Adolescent Psychiatry 2018;57 (2):74-76 [PubMed]
  • Huijbregts Stephan C. J., Bosch Annet M., Simons Quirine A., Jahja Rianne, Brouwers Martijn C. G. J., de Sonneville Leo M. J., de Vries Maaike C., Hofstede Floris C., Hollak Carla E. M., Janssen Mirian C. H., Langendonk Janneke G., Rubio-Gozalbo M. Estela, van der Meere Jaap J., van der Ploeg Ans T., van Spronsen Francjan J. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study Molecular genetics and metabolism 2018;125 (1-2):96-103 [PubMed]
  • van Karnebeek Clara D. M., Wortmann Saskia B., Tarailo-Graovac Maja, Langeveld Mirjam, Ferreira Carlos R., van de Kamp Jiddeke M., Hollak Carla E., Wasserman Wyeth W., Waterham Hans R., Wevers Ron A., Haack Tobias B., Wanders Ronald J. A., Boycott Kym M. The role of the clinician in the multi-omics era: are you ready? Journal of inherited metabolic disease 2018;41 (3):571-582 [PubMed]

2017

  • Boot E., Hollak C. E. M., Huijbregts S. C. J., Jahja R., van Vliet D., Nederveen A. J., Nieman D. H., Bosch A. M., Bour L. J., Bakermans A. J., Abeling N. G. G. M., Bassett A. S., van Amelsvoort T. A. M. J., van Spronsen F. J., Booij J. Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria Psychological medicine 2017;47 (16):2854-2865 [PubMed]
  • Arends Maarten, Wanner Christoph, Hughes Derralynn, Mehta Atul, Oder Daniel, Watkinson Oliver T., Elliott Perry M., Linthorst Gabor E., Wijburg Frits A., Biegstraaten Marieke, Hollak Carla E. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study Journal of the American Society of Nephrology 2017;28 (5):1631-1641 [PubMed]
  • Welling Lindsey Classical galactosemia: A cloud with a silver lining 2017. 218p. ISBN 9789462956995. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Hollak C. E. M.; Co-supervisor: Bosch A. M.)
  • Jahja Rianne, Huijbregts Stephan C. J., de Sonneville Leo M. J., van der Meere Jaap J., Legemaat Amanda M., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., van Spronsen Francjan J. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study Neuropsychology 2017;31 (4):437-447 [PubMed]
  • Arends Maarten Enzyme replacement therapy in Fabry disease, towards individualized treatment 2017. 233p. ISBN 9789402807028. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Hollak C. E. M.; Co-supervisor: Biegstraaten M.)
  • Schuller Y., Hollak C. E. M., Gispen-de Wied C. C., Stoyanova-Beninska V., Biegstraaten M. Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases Drugs 2017;77 (13):1461-1472 [PubMed]
  • Arends Maarten, Wijburg Frits A., Wanner Christoph, Vaz Frédéric M., van Kuilenburg André B. P., Hughes Derralynn A., Biegstraaten Marieke, Mehta Atul, Hollak Carla E. M., Langeveld Mirjam Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease Molecular genetics and metabolism 2017;121 (2):157-161 [PubMed]
  • van Erven Britt, Berry Gerard T., Cassiman David, Connolly Geraldine, Forga Maria, Gautschi Matthias, Gubbels Cynthia S., Hollak Carla E. M., Janssen Mirian C., Knerr Ina, Labrune Philippe, Langendonk Janneke G., Õunap Katrin, Thijs Abel, Vos Rein, Wortmann Saskia B., Rubio-Gozalbo M. Estela Fertility in adult women with classic galactosemia and primary ovarian insufficiency Fertility and sterility 2017;108 (1):168-174 [PubMed]
  • Regenboog Martine, Bohte Anneloes E., Akkerman Erik M., Stoker Jaap, Hollak Carla E. M. Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment British journal of haematology 2017;179 (4):635-647 [PubMed]
  • Burgard Peter, Ullrich Kurt, Ballhausen Diana, Hennermann Julia B., Hollak Carla E. M., Langeveld Mirjam, Karall Daniela, Konstantopoulou Vassiliki, Maier Esther M., Lang Frauke, Lachmann Robin, Murphy Elaine, Garbade Sven, Hoffmann Georg F., Kölker Stefan, Lindner Martin, Zschocke Johannes Issues with European guidelines for phenylketonuria Lancet. Diabetes and endocrinology 2017;5 (9):681-683 [PubMed]
  • Skrunes Rannveig, Tøndel Camilla, Leh Sabine, Larsen Kristin Kampevold, Houge Gunnar, Davidsen Einar Skulstad, Hollak Carla, van Kuilenburg André B. P., Vaz Frédéric M., Svarstad Einar Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease Clinical journal of the American Society of Nephrology 2017;12 (9):1470-1479 [PubMed]
  • Jahja Rianne, van Spronsen Francjan J., de Sonneville Leo M. J., van der Meere Jaap J., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., Huijbregts Stephan C. J. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study Behavior genetics 2017;47 (5):486-497 [PubMed]
  • Demirdas Serwet, van Spronsen Francjan J., Hollak Carla E. M., van der Lee J. Hanneke, Bisschop Peter H., Vaz Fred M., ter Horst Nienke M., Rubio-Gozalbo M. Estela, Bosch Annet M. Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria Annals of nutrition & metabolism 2017;70 (2):111-121 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Hughes Derralynn A., Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Vaz Frédéric M., van Kuilenburg André B. P., Wanner Christoph, Hollak Carla E. M. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors PLoS ONE 2017;12 (8):e0182379 [PubMed]
  • Schiffmann Raphael, Hughes Derralynn A., Linthorst Gabor E., Ortiz Alberto, Svarstad Einar, Warnock David G., West Michael L., Wanner Christoph, Bichet Daniel G., Christensen Erik Ilsø, Correa-Rotter Ricardo, Elliott Perry M., Feriozzi Sandro, Fogo Agnes B., Germain Dominique P., Hollak Carla E. M., Hopkin Robert J., Johnson Jack, Kantola Ilkka, Kopp Jeffrey B., Kröner Jürgen, Linhart Aleš, Martins Ana Maria, Matern Dietrich, Mehta Atul B., Mignani Renzo, Najafian Behzad, Narita Ichiei, Nicholls Kathy, Obrador Greg T., Oliveira João Paulo, Pisani Antonio, Politei Juan, Ramaswami Uma, Ries Markus, Terryn Wim, Tøndel Camilla, Torra Roser, Vujkovac Bojan, Waldek Stephen, Walter Jerry Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference Kidney international 2017;91 (2):284-293 [PubMed]
  • Welsink-Karssies M. M., Polderman J. A. W., Nieveen van Dijkum E. J., Preckel B., Schlack W. S., Visser G., Hollak C. E., Hermanides J. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients JIMD reports 2017;34:49-54 [PubMed]

2016

  • Sedel Frédéric, Hollak Carla E. M. 28. Disorders of Thiamine Metabolismin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 181-185
  • Hollak Carla E. M. 47. Gaucher Diseasein: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 305-311
  • Geberhiwot Tarekegn, Hollak Carla E. M. 48. Niemann-Pick Disease Type Bin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 313-316
  • Hollak Carla E. M. 58. Cholesteryl Ester Storage Diseasein: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 373-376
  • Hollak Carla E. M. 71. Approach to the Patient with Respiratory Signs and Symptomsin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 481-483
  • Hollak Carla E. M. 72. Skeletal Abnormalitiesin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 485-488
  • Cassiman David, Hollak Carla E. M. 74. Approach to the patient with Hepato-Gastroenterological or abdominal sings and symptomsin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 493-497
  • Hollak Carla E. M. 77. Hematological Abnormalitiesin: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 509-512
  • Schooneman Marieke G., Napolitano Antonella, Houten Sander M., Ambler Graeme K., Murgatroyd Peter R., Miller Sam R., Hollak Carla E. M., Tan Chong Y., Virtue Samuel, Vidal-Puig Antonio, Nunez Derek J., Soeters Maarten R. Assessment of plasma acylcarnitines before and after weight loss in obese subjects Archives of biochemistry and biophysics 2016;606:73-80 [PubMed]
  • Smid Bouwien E., Ferraz Maria J., Verhoek Marri, Mirzaian Mina, Wisse Patrick, Overkleeft Herman S., Hollak Carla E., Aerts Johannes M. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients Orphanet journal of rare diseases 2016;11 (1):28 [PubMed]
  • van der Tol Linda, Sminia Marije L., Hollak Carla E. M., Biegstraaten Marieke Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review British journal of ophthalmology 2016;100 (1):3-8 [PubMed]
  • Arends Maarten, Linthorst Gabor E., Hollak Carla E., Biegstraaten Marieke Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort Molecular genetics and metabolism 2016;117 (2):194-198 [PubMed]
  • van Rappard Diane F., Boelens Jaap J., van Egmond Martje E., Kuball Jurgen, van Hasselt Peter M., Oostrom Kim J., Pouwels Petra J. W., van der Knaap Marjo S., Hollak Carla E. M., Wolf Nicole I. Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience Blood 2016;127 (24):3098-3101 [PubMed]
  • Schuller Y., Linthorst G. E., Hollak C. E. M., van Schaik I. N., Biegstraaten M. Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review BMC neurology 2016;16 (1):67 [PubMed]
  • van Rappard Diane F., Bugiani Marianna, Boelens Jaap J., van der Steeg Alida F. W., Daams Freek, de Meij Tim G. J., van Doorn Martine M. A. C., van Hasselt Peter M., Gouma Dirk J., Verbeke Jonathan I. M. L., Hollak Carla E. M., van Hecke Wim, Salomons Gajja S., van der Knaap Marjo S., Wolf Nicole I. Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy Neurology 2016;87 (1):103-111 [PubMed]
  • Regenboog Martine, van Kuilenburg André B. P., Verheij Joanne, Swinkels Dorine W., Hollak Carla E. M. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications Blood reviews 2016;30 (6):431-437 [PubMed]
  • Regenboog Martine, Bohte Anneloes E., Somers Inne, van Delden Otto M., Maas Mario, Hollak Carla E. M. Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease Blood cells, molecules & diseases 2016;60:49-57 [PubMed]
  • Hollak Carla E. M., Lachmann Robin H. Inherited Metabolic Disease in Adults: A Clinical GuideNey York: Oxford University Press; 2016. 684p.
  • van der Tol Linda, Verhamme Camiel, van Schaik Ivo N., van der Kooi Anneke J., Hollak Carla E. M., Biegstraaten Marieke In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease JIMD reports 2016;28:95-103 [PubMed]
  • de Boer Geertje M., van Dussen Laura, van den Toorn Leon M., den Bakker Michael A., Hoek Rogier A. S., Hesselink Dennis A., Hollak Carla E. M., van Hal Peter Th W. Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis Chest 2016;149 (1):e1-e5 [PubMed]
  • Schuller Y., Linthorst G. E., Hollak C. E. M., van Schaik I. N., Biegstraaten M. Pain management strategies for neuropathic pain in Fabry disease--a systematic review BMC neurology 2016;16 (1):25 [PubMed]
  • Hollak Carla E. M., Biegstraaten Marieke, Baumgartner Matthias R., Belmatoug Nadia, Bembi Bruno, Bosch Annet, Brouwers Martijn, Dekker Hanka, Dobbelaere Dries, Engelen Marc, Groenendijk Marike C., Lachmann Robin, Langendonk Janneke G., Langeveld Mirjam, Linthorst Gabor, Morava Eva, Poll-The Bwee Tien, Rahman Shamima, Rubio-Gozalbo M. Estela, Spiekerkoetter Ute, Treacy Eileen, Wanders Ronald, Zschocke Johannes, Hagendijk Rob Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks Orphanet journal of rare diseases 2016;11 (1):7 [PubMed]
  • Jahja Rianne, van Spronsen Francjan J., de Sonneville Leo M. J., van der Meere Jaap J., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., Huijbregts Stephan C. J. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study Journal of inherited metabolic disease 2016;39 (3):355-362 [PubMed]
  • Schooneman Marieke G., Houtkooper Riekelt H., Hollak Carla E. M., Wanders Ronald J. A., Vaz Frédéric M., Soeters Maarten R., Houten Sander M. The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (8):1375-1382 [PubMed]

2015

  • Langereis Eveline J., van Vlies Naomi, Church Heather J., Geskus Ronald B., Hollak Carla E. M., Jones Simon A., Kulik Wim, van Lenthe Henk, Mercer Jean, Schreider Lena, Tylee Karen L., Wagemans Tom, Wijburg Frits A., Bigger Brian W. Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy Molecular genetics and metabolism 2015;114 (2):129-137 [PubMed]
  • Demirdas Serwet, Coakley Katie E., Bisschop Peter H., Hollak Carla E. M., Bosch Annet M., Singh Rani H. Bone health in phenylketonuria: a systematic review and meta-analysis Orphanet journal of rare diseases 2015;10 (1):17 [PubMed]
  • van der Tol Linda, Svarstad Einar, Ortiz Alberto, Tøndel Camilla, Oliveira João Paulo, Vogt Liffert, Waldek Stephen, Hughes Derralynn A., Lachmann Robin H., Terryn Wim, Hollak Carla E., Florquin Sandrine, van den Bergh Weerman Marius A., Wanner Christoph, West Michael L., Biegstraaten Marieke, Linthorst Gabor E. Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis Molecular genetics and metabolism 2015;114 (2):242-247 [PubMed]
  • Hollak C. E. M., Boelens J. J. De ziekte van Gaucher en andere erfelijke stofwisselingsziektenin: B. Löwenberg, G. J. Ossenkoppele, N. M. A. Blijlevens, F. W. G. Leebeek, S. Zweegman, editors. Leerboek Hematologie. Utrecht: De Tijdstroom; 2015. p. 250-265, ISBN 9789058988650
  • Smid Bouwien Elisabeth Diagnostic and therapeutic dilemmas in Fabry and Gaucher disease 2015. 360p. ISBN 9789462595545. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Hollak C. E. M.; Co-supervisor: Linthorst G. E.)
  • Smid B. E., Hollak C. E. M., Poorthuis B. J. H. M., van den Bergh Weerman M. A., Florquin S., Kok W. E. M., Lekanne Deprez R. H., Timmermans J., Linthorst G. E. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance Clinical genetics 2015;88 (2):161-166 [PubMed]
  • Hollak Carla E. M., Hovingh G. Kees Dyslipidaemia: Lysosomal acid lipase deficiency-a cautious leap forward Nature reviews. Endocrinology 2015;11 (12):696-697 [PubMed]
  • Shemesh Elad, Deroma Laura, Bembi Bruno, Deegan Patrick, Hollak Carla, Weinreb Neal J., Cox Timothy M. Enzyme replacement and substrate reduction therapy for Gaucher disease Cochrane database of systematic reviews (Online) 2015;2015 (3):CD010324 [PubMed]
  • van der Tol Linda Fabry or not Fabry: From genetics to diagnosis 2015. 231p. ISBN 9789462596047. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Hollak C. E. M.; Co-supervisors: Linthorst G. E., Biegstraaten M.)
  • Suntjens Eefje B., Smid Bouwien E., Biegstraaten Marieke, Dreschler Wouter A., Hollak Carla E. M., Linthorst Gabor E. Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy Journal of inherited metabolic disease 2015;38 (2):351-358 [PubMed]
  • Schooneman Marieke Guurtje Here, there and everywhere. A multi organ approach to acylcarnitine metabolism 2015. 165p. ISBN 9789090288666. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Hollak C. E. M., Wanders R. J. A.; Co-supervisors: Soeters M. R., Houten S. M.)
  • Liemburg Geertje B., Jahja Rianne, van Spronsen Francjan J., de Sonneville Leo M. J., van der Meere Jaap J., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., Huijbregts Stephan C. J. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria? Molecular genetics and metabolism 2015;114 (3):425-430 [PubMed]
  • Hollak Carla E. M. Lysomal Storage Disroders Preface Best practice & research. Clinical endocrinology & metabolism 2015;29 (2):125-126 [PubMed]
  • Brands Marion M. G., Güngör Deniz, van den Hout Johanna M. P., Karstens Francois P. J., Oussoren Esmee, Plug Iris, Boelens Jaap Jan, van Hasselt Peter M., Hollak Carla E. M., Mulder Margot F., Rubio Gozalbo Estela, Smeitink Jan A., Smit G. Peter A., Wijburg Frits A., Meutgeert Hanka, van der Ploeg Ans T. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey Journal of inherited metabolic disease 2015;38 (2):323-331 [PubMed]
  • Velema Marieke, Boot Erik, Engelen Marc, Hollak Carla Parkinsonism in phenylketonuria: a consequence of dopamine depletion? JIMD reports 2015;20:35-38 [PubMed]
  • Smid Bouwien E., van der Tol Linda, Biegstraaten Marieke, Linthorst Gabor E., Hollak Carla E. M., Poorthuis Ben J. H. M. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease Journal of medical genetics 2015;52 (4):262-268 [PubMed]
  • Hollak Carla E. M., Biegstraaten Marieke, Levi Marcel, Hagendijk Rob Post-authorisation assessment of orphan drugs Lancet 2015;386 (10007):1940-1941 [PubMed]
  • Arends Maarten, Hollak Carla E. M., Biegstraaten Marieke Quality of life in patients with Fabry disease: a systematic review of the literature Orphanet journal of rare diseases 2015;10 (1):77 [PubMed]
  • Luzzatto Lucio, Hollak Carla E. M., Cox Timothy M., Schieppati Arrigo, Licht Christoph, Kääriäinen Helena, Merlini Giampaolo, Schaefer Franz, Simoens Steven, Pani Luca, Garattini Silvio, Remuzzi Giuseppe Rare diseases and effective treatments: are we delivering? Lancet 2015;385 (9970):750-752 [PubMed]
  • Biegstraaten Marieke, Arngrímsson Reynir, Barbey Frederic, Boks Lut, Cecchi Franco, Deegan Patrick B., Feldt-Rasmussen Ulla, Geberhiwot Tarekegn, Germain Dominique P., Hendriksz Chris, Hughes Derralynn A., Kantola Ilkka, Karabul Nesrin, Lavery Christine, Linthorst Gabor E., Mehta Atul, van de Mheen Erica, Oliveira João P., Parini Rossella, Ramaswami Uma, Rudnicki Michael, Serra Andreas, Sommer Claudia, Sunder-Plassmann Gere, Svarstad Einar, Sweeb Annelies, Terryn Wim, Tylki-Szymanska Anna, Tøndel Camilla, Vujkovac Bojan, Weidemann Frank, Wijburg Frits A., Woolfson Peter, Hollak Carla E. M. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document Orphanet journal of rare diseases 2015;10 (1):36 [PubMed]
  • Limonard Eelkje J., Veldhuis-Vlug Annegreet G., van Dussen Laura, Runge Jurgen H., Tanck Michael W., Endert Erik, Heijboer Annemieke C., Fliers Eric, Hollak Carla E., Akkerman Erik M., Bisschop Peter H. Short-Term Effect of Estrogen on Human Bone Marrow Fat Journal of bone and mineral research 2015;30 (11):2058-2066 [PubMed]
  • Hollak Carla E. M., Weinreb Neal J. The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease Best practice & research. Clinical endocrinology & metabolism 2015;29 (2):205-218 [PubMed]
  • Clarke Lorne A., Hollak Carla E. M. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders Best practice & research. Clinical endocrinology & metabolism 2015;29 (2):219-235 [PubMed]
  • Schuller Y., Hollak C. E. M., Biegstraaten M. The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review Orphanet journal of rare diseases 2015;10 (1):92 [PubMed]

2014

  • Smid Bouwien E., Hollak Carla E. M. A systematic review on effectiveness and safety of eliglustat for type 1 Gaucher disease Expert opinion on orphan drugs 2014;2 (5):523-529
  • van der Tol L., Smid B. E., Poorthuis B. J. H. M., Biegstraaten M., Deprez R. H. Lekanne, Linthorst G. E., Hollak C. E. M. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance Journal of medical genetics 2014;51 (1):1-9 [PubMed]
  • van Dussen Laura, Biegstraaten Marieke, Hollak Carla E. M., Dijkgraaf Marcel G. W. Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease Orphanet journal of rare diseases 2014;9 (1):51 [PubMed]
  • Weinreb Neal J., Goldblatt Jack, Villalobos Jacobo, Charrow Joel, Cole J. Alexander, Kerstenetzky Marcelo, vom Dahl Stephan, Hollak Carla Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment Journal of inherited metabolic disease 2014;37 (1):147 [PubMed]
  • Shu Liming, Vivekanandan-Giri Anuradha, Pennathur Subramaniam, Smid Bouwien E., Aerts Johannes M. F. G., Hollak Carla E. M., Shayman James A. Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease Kidney international 2014;86 (1):58-66 [PubMed]
  • van Dussen L., Akkerman E. M., Hollak C. E. M., Nederveen A. J., Maas M. Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned Journal of inherited metabolic disease 2014;37 (6):1003-1011 [PubMed]
  • van Dussen L., Lips P., van Essen H. W., Hollak C. E. M., Bravenboer N. Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates Blood cells, molecules & diseases 2014;53 (3):118-123 [PubMed]
  • Hollak Carla, Kettwig Matthias, Schlotawa Lars, Steinfeld Robert Lysosomal storage disorders including neuronal ceroid lipofuscinosesin: N. Blau, M. Duran, K. M. Gibson, C. Dionisi-Vici, editors. Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. New York; Berlin: Springer; 2014. p. 399-435, ISBN 9783642403378
  • van Dussen Laura, Biegstraaten Marieke, Dijkgraaf Marcel Gw, Hollak Carla Em Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications Orphanet journal of rare diseases 2014;9 (1):112 [PubMed]
  • Rombach Saskia M., Smid Bouwien E., Linthorst Gabor E., Dijkgraaf Marcel G. W., Hollak Carla E. M. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages Journal of inherited metabolic disease 2014;37 (3):341-352 [PubMed]
  • Hollak C. E. M., van Spronsen F. J. Transitionsmedizin in den Niederlandenin: S. vom Dahl, F. Lammert, K. Ullrich, U. Wendel, editors. Angeborene Stoffwechselkrankheiten bei Erwachsenen. Würzburg: Springer; 2014. p. 47-53, ISBN 9783642451874
  • Hollak Carla E. M., Wijburg Frits A. Treatment of lysosomal storage disorders: successes and challenges Journal of inherited metabolic disease 2014;37 (4):587-598 [PubMed]
  • van Dussen Laura Twenty years of treatment for Gaucher disease: emerging challengess.l: 2014. 349p. ISBN 9789461086013. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Hollak C. E. M., Aerts J. M. F. G.; Co-supervisor: Maas M.)
  • Smid B. E., van der Tol L., Cecchi F., Elliott P. M., Hughes D. A., Linthorst G. E., Timmermans J., Weidemann F., West M. L., Biegstraaten M., Lekanne Deprez R. H., Florquin S., Postema P. G., Tomberli B., van der Wal A. C., van den Bergh Weerman M. A., Hollak C. E. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance International journal of cardiology 2014;177 (2):400-408 [PubMed]
  • van der Tol L., Cassiman David, Houge Gunnar, Janssen Mirian C., Lachmann Robin H., Linthorst Gabor E., Ramaswami Uma, Sommer Claudia, Tøndel Camilla, West Michael L., Weidemann Frank, Wijburg Frits A., Svarstad Einar, Hollak Carla E. M., Biegstraaten Marieke Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up JIMD reports 2014;17:83-90 [PubMed]
  • van Dussen L., Hendriks E. J., Groener J. E. M., Boot R. G., Hollak C. E. M., Aerts J. M. F. G. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy Journal of inherited metabolic disease 2014;37 (6):991-1001 [PubMed]
  • Brouwers Martijn C. G. J., Linthorst Gabor E., Karstens François P. J., Rennings Alexander, Alkemade Gonnie, Meersseman Wouter, Cassiman David, Thijs Abel, Wolffenbuttel Bruce H. R., Hollak Carla E. M., Janssen Mirian C. H., Langendonk Janneke G. Volwassenen met een erfelijke stofwisselingsziekte: een sterk groeiende populatie met unieke problematiek Nederlands tijdschrift voor geneeskunde 2014;158:A7745 [PubMed]

2013

  • Smid B. E., Hoogendijk S. L., Wijburg F. A., Hollak C. E. M., Linthorst G. E. A revised home treatment algorithm for Fabry disease: influence of antibody formation Molecular genetics and metabolism 2013;108 (2):132-137 [PubMed]
  • Picavet Eline, Cassiman David, Hollak Carla E., Maertens Johan A., Simoens Steven Clinical evidence for orphan medicinal products-a cause for concern? Orphanet journal of rare diseases 2013;8 (1):164 [PubMed]
  • Demirdas Serwet, van Kessel Imke N., Korndewal Marjolein J., Hollak Carla E. M., Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J., Bosch Annet M., Asselbergs Folkert W., Blank Christiaan, Derks Terry G. J., Diekman Eugène F., Dijsselhof Monique E., Engelen Marc, van Hasselt Peter M., ter Horst Nienke M., van den Hurk Dorine A. M., Janssen Mirian C. H., Karstens Francois P. J., van der Louw Elles, Morava Eva, Nicolai Joost, van de Pol Ludo, Poll-The Bwee Tien, Rubio-Gozalbo Estela, Smit G. Peter A., de Ruijter Jessica, Timmer Corrie, Touw Catharina M. L., Visser Gepke, de Valk Harold W., Wijburg Frits A., Williams Monique Clinical pathways for inborn errors of metabolism: warranted and feasible Orphanet journal of rare diseases 2013;8 (1):37 [PubMed]
  • van der Wiel Adoree M., Janssen Mirian C. H., Hollack Carla E. M., Langendonk Janneke G. Complicaties door verwisseling aminozuurpreparaten Nederlands tijdschrift voor geneeskunde 2013;157 (3):A5183 [PubMed]
  • Rombach Saskia M., Hollak Carla E. M., Linthorst Gabor E., Dijkgraaf Marcel G. W. Cost-effectiveness of enzyme replacement therapy for Fabry disease Orphanet journal of rare diseases 2013;8 (1):29 [PubMed]
  • Biegstraaten Marieke, Linthorst Gabor E., van Schaik Ivo N., Hollak Carla E. M. Fabry disease: a rare cause of neuropathic pain Current pain and headache reports 2013;17 (10):365 [PubMed]
  • Rombach Saskia M. Fabry meets Markov. Evaluating biochemistry, disease course and costs in support of health care policy 2013. 247p. ISBN 9789090273198. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Aerts J. M. F. G., Hollak C. E. M.; Co-supervisors: Linthorst G. E., Dijkgraaf M. G. W.)
  • Bouwman Machtelt G., de Ru Minke H., Linthorst Gabor E., Hollak Carla E. M., Wijburg Frits A., van Zwieten Myra C. B. Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening Molecular genetics and metabolism 2013;109 (2):201-207 [PubMed]
  • Hollak C. E. Gaucher's diseasein: M. J. Parnham, editors. Encyclopedia of Inflammatory Disorders. S.l.: Springer; 2013.
  • Bohte Anneloes E., van Dussen Laura, Akkerman Erik M., Nederveen Aart J., Sinkus Ralph, Jansen Peter L. M., Stoker Jaap, Hollak Carla E. M. Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage PLoS ONE 2013;8 (3):e57507 [PubMed]
  • Weinreb Neal J., Goldblatt Jack, Villalobos Jacobo, Charrow Joel, Cole J. Alexander, Kerstenetzky Marcelo, vom Dahl Stephan, Hollak Carla Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment Journal of inherited metabolic disease 2013;36 (3):543-553 [PubMed]
  • Rombach Saskia M., Smid Bouwien E., Bouwman Machtelt G., Linthorst Gabor E., Dijkgraaf Marcel G. W., Hollak Carla E. M. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain Orphanet journal of rare diseases 2013;8 (1):47 [PubMed]
  • Arends Maarten, van Dussen Laura, Biegstraaten Marieke, Hollak Carla E. M. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature British journal of haematology 2013;161 (6):832-842 [PubMed]
  • Jahja Rianne, Huijbregts Stephan C. J., de Sonneville Leo M. J., van der Meere Jaap J., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., van Spronsen Francjan J. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study Molecular genetics and metabolism 2013;110 (Suppl):S57-S61 [PubMed]
  • Kuter David J., Mehta Atul, Hollak Carla E. M., Giraldo Pilar, Hughes Derralynn, Belmatoug Nadia, Brand Monika, Muller Audrey, Schaaf Berthold, Giorgino Ruben, Zimran Ari Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study Blood cells, molecules & diseases 2013;51 (2):116-124 [PubMed]
  • de Ru Minke H., van der Tol Linda, van Vlies Naomi, Bigger Brian W., Hollak Carla E. M., Ijlst Lodewijk, Kulik Wim, van Lenthe Henk, Saif Muhammad A., Wagemans Tom, van der Wal Willem M., Wanders Ronald J., Wijburg Frits A. Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans Journal of inherited metabolic disease 2013;36 (2):247-255 [PubMed]
  • Linthorst Gabor E., Burlina Alessandro P., Cecchi Franco, Cox Timothy M., Fletcher Janice M., Feldt-Rasmussen Ulla, Giugliani Roberto, Hollak Carla E. M., Houge Gunnar, Hughes Derralynn, Kantola Iikka, Lachmann Robin, Lopez Monica, Ortiz Alberto, Parini Rossella, Rivera Alberto, Rolfs Arndt, Ramaswami Uma, Svarstad Einar, Tondel Camilla, Tylki-Szymanska Anna, Vujkovac Bojan, Waldek Steven, West Michael, Weidemann F., Mehta Atul Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage JIMD reports 2013;8:51-56 [PubMed]
  • van Dussen L., Zimran A., Akkerman E. M., Aerts J. M. F. G., Petakov M., Elstein D., Rosenbaum H., Aviezer D., Brill-Almon E., Chertkoff R., Maas M., Hollak C. E. M. Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease Blood cells, molecules & diseases 2013;50 (3):206-211 [PubMed]
  • Anjema Karen, van Rijn Margreet, Hofstede Floris C., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo Estela, de Vries Maaike C., Janssen Mirian C. H., Boelen Carolien C. A., Burgerhof Johannes G. M., Blau Nenad, Heiner-Fokkema M. Rebecca, van Spronsen Francjan J. Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype Orphanet journal of rare diseases 2013;8 (1):103 [PubMed]
  • Harmatz Paul, Mengel Karl Eugen, Giugliani Roberto, Valayannopoulos Vassili, Lin Shuan-Pei, Parini Rossella, Guffon Nathalie, Burton Barbara K., Hendriksz Christian J., Mitchell John, Martins Ana, Jones Simon, Guelbert Norberto, Vellodi Ashok, Hollak Carla, Slasor Peter, Decker Celeste The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects Molecular genetics and metabolism 2013;109 (1):54-61 [PubMed]

2012

  • Hollak C. E. M., de Sonnaville E. S. V., Cassiman D., Linthorst G. E., Groener J. E., Morava E., Wevers R. A., Mannens M., Aerts J. M. F. G., Meersseman W., Akkerman E., Niezen-Koning K. E., Mulder M. F., Visser G., Wijburg F. A., Lefeber D., Poorthuis B. J. H. M. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients Molecular genetics and metabolism 2012;107 (3):526-533 [PubMed]
  • Hollak Carla E. M. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease Core evidence 2012;7:15-20 [PubMed]
  • Aerts Johannes M. F. G., Ferraz Maria Joao, Boot Rolf G., van Breemen Marielle J., Dekker Nick, Kramer Gertjan, Hollak Carla E. M., Maas Mario, Linthorst Gabor E., Smid Bouwien, Rombach Saskia M., van Dussen Laura, Poorthuis Ben, Groener Johanna E. M. Biomarkers for Lysosomal Storage Disordersin: Sankar Surendran, editors. Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease. Hauppage, New York: Nova Science Publishers; 2012. p. 169-203, ISBN 9781612096711
  • de Ru Minke H., Teunissen Quirine Ga, van der Lee Johanna H., Beck Michael, Bodamer Olaf A., Clarke Lorne A., Hollak Carla E., Lin Shuan-Pei, Rojas Maria-Verónica Muñoz, Pastores Gregory M., Raiman Julian A., Scarpa Maurizio, Treacy Eileen P., Tylki-Szymanska Anna, Wraith J. Edmond, Zeman Jiri, Wijburg Frits A. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure Orphanet journal of rare diseases 2012;7 (1):22 [PubMed]
  • Hollak Carla E. M., Belmatoug Nadia, Cole J. Alexander, vom Dahl Stephan, Deegan Patrick B., Goldblatt Jack, Rosenbloom Barry, van Dussen Laura, Tylki-Szymańska Anna, Weinreb Neal J., Zimran Ari, Cappellini Maria Domenica Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years British journal of haematology 2012;158 (4):528-538 [PubMed]
  • van Dussen Laura, Cox Timothy M., Hendriks Erik J., Morris Elizabeth, Akkerman Erik M., Maas Mario, Groener Johanna E. M., Aerts Johannes M. F. G., Deegan Patrick B., Hollak Carla E. M. Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes Haematologica 2012;97 (12):1850-1854 [PubMed]
  • Cox Timothy M., Amato Dominick, Hollak Carla E. M., Luzy Cecile, Silkey Mariabeth, Giorgino Ruben, Steiner Robert D. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study Orphanet journal of rare diseases 2012;7 (1):102 [PubMed]
  • Bouwman Machtelt G. Fabry disease: studies on diagnosis, screening and patients' perspectives 2012. 207p. ISBN 9789461820287. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Hollak C. E. M.; Co-supervisors: Linthorst G. E., van Zwieten M. C. B.)
  • Arning Kathrin, Naleschinski Dennis, Maag Rainer, Biegstraaten Marieke, Kropp Peter, Lorenzen Jürgen, Hollak Carla E. M., van Schaik Ivo N., Harten Pontus, Zeuner Rainald A., Binder Andreas, Baron Ralf FabryScan: a screening tool for early detection of Fabry disease Journal of neurology 2012;259 (11):2393-2400 [PubMed]
  • Rombach Saskia M., Aerts Johannes M. F. G., Poorthuis Ben J. H. M., Groener Johanna E. M., Donker-Koopman Wilma, Hendriks Erik, Mirzaian Mina, Kuiper Sijmen, Wijburg Frits A., Hollak Carla E. M., Linthorst Gabor E. Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome PLoS ONE 2012;7 (10):e47805-(7 p.) [PubMed]
  • Linthorst Gabor E., Hollak Carla E. M. Newborn, High Risk and Carrier Screening for Lysosomal Storage Disordersin: A. Metha, B. Winchester, editors. Lysosomal Storage Disorders: A Practical Guide. S.l.: Wiley-Blackwell; 2012. p. 181-185, ISBN 9780470670573
  • Bouwman Machtelt G., Rombach Saskia M., Schenk Erica, Sweeb Annelies, Wijburg Frits A., Hollak Carla E. M., Linthorst Gabor E. Prevalence of symptoms in female Fabry disease patients: a case-control survey Journal of inherited metabolic disease 2012;35 (5):891-898 [PubMed]
  • den Bakker Michael A., Grünberg Katrien, Boonstra Anco, van Hal Peter Th W., Hollak Carla E. M. Pulmonary arterial hypertension with plexogenic arteriopathy in enzyme-substituted Gaucher disease Histopathology 2012;61 (2):324-326 [PubMed]
  • Biegstraaten Marieke, Hollak Carla E. M., Bakkers Mayienne, Faber Catharina G., Aerts Johannes M. F. G., van Schaik Ivo N. Small fiber neuropathy in Fabry disease Molecular genetics and metabolism 2012;106 (2):135-141 [PubMed]
  • Biegstraaten Marieke, Wesnes Keith A., Luzy Cécile, Petakov Milan, Mrsic Mirando, Niederau Claus, Giraldo Pilar, Hughes Derralynn, Mehta Atul, Mengel Karl-Eugen, Hollak Carla E. M., Maródi László, van Schaik Ivo N. The cognitive profile of type 1 Gaucher disease patients Journal of inherited metabolic disease 2012;35 (6):1093-1099 [PubMed]
  • Rombach Saskia M., van den Bogaard Bas, de Groot Eric, Groener Johanna E. M., Poorthuis Ben J., Linthorst Gabor E., van den Born Bert-Jan H., Hollak Carla E. M., Aerts Johannes M. F. G. Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine Hypertension 2012;60 (4):998-1005 [PubMed]

2011

  • Biegstraaten M., van Schaik I. N., Aerts J. M. F. G., Langeveld M., Mannens M. M. A. M., Bour L. J., Sidransky E., Tayebi N., Fitzgibbon E., Hollak C. E. M. A monozygotic twin pair with highly discordant Gaucher phenotypes Blood cells, molecules & diseases 2011;46 (1):39-41 [PubMed]
  • Aerts Johannes M. F. G., Kallemeijn Wouter W., Wegdam Wouter, Joao Ferraz Maria, van Breemen Marielle J., Dekker Nick, Kramer Gertjan, Poorthuis Ben J., Groener Johanna E. M., Cox-Brinkman Josanne, Rombach Saskia M., Hollak Carla E. M., Linthorst Gabor E., Witte Martin D., Gold Henrik, van der Marel Gijs A., Overkleeft Herman S., Boot Rolf G. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies Journal of inherited metabolic disease 2011;34 (3):605-619 [PubMed]
  • Smid Bouwien E., Rombach Saskia M., Aerts Johannes M. F. G., Kuiper Symen, Mirzaian Mina, Overkleeft Hermen S., Poorthuis Ben J. H. M., Hollak Carla E. M., Groener Johanna E. M., Linthorst Gabor E. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients Orphanet journal of rare diseases 2011;6 (1):69 [PubMed]
  • Dekker Nick, van Dussen Laura, Hollak Carla E. M., Overkleeft Herman, Scheij Saskia, Ghauharali Karen, van Breemen Mariëlle J., Ferraz Maria J., Groener Johanna E. M., Maas Mario, Wijburg Frits A., Speijer Dave, Tylki-Szymanska Anna, Mistry Pramod K., Boot Rolf G., Aerts Johannes M. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response Blood 2011;118 (16):e118-e127 [PubMed]
  • Linthorst Gabor E., Germain Dominique P., Hollak Carla E. M., Hughes Derralynn, Rolfs Arndt, Wanner Christoph, Mehta Atul Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT) Molecular genetics and metabolism 2011;102 (1):99-102 [PubMed]
  • ten Hoedt Amber E., de Sonneville Leo M. J., Francois Baudouin, ter Horst Nienke M., Janssen Mirian C. H., Rubio-Gozalbo M. Estela, Wijburg Frits A., Hollak Carla E. M., Bosch Annet M. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial Journal of inherited metabolic disease 2011;34 (1):165-171 [PubMed]
  • Bouwman Machtelt G., Maurice-Stam Heleen, Linthorst Gabor E., Hollak Carla E. M., Wijburg Frits A., Grootenhuis Martha A. Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life Molecular genetics and metabolism 2011;104 (3):308-313 [PubMed]
  • Hollak Carla E. M., Aerts Johannes M. F. G., Aymé Ségolène, Manuel Jeremy Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders Orphanet journal of rare diseases 2011;6 (1):16 [PubMed]
  • van Dussen L., Lips P., Everts V. E., Bravenboer N., Jansen I. D. C., Groener J. E. M., Maas M., Blokland J. A. K., Aerts J. M. F. G., Hollak C. E. M. Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease Journal of clinical endocrinology and metabolism 2011;96 (7):2194-2205 [PubMed]
  • ten Hoedt Amber E., Hollak Carla E. M., Boelen Carolien C. A., van der Herberg-van de Wetering N. Ada P., ter Horst Nienke M., Jonkers Cora F., Wijburg Frits A., Bosch Annet M. "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial Orphanet journal of rare diseases 2011;6 (1):48 [PubMed]
  • Biegstraaten Marieke Neurological aspects of Gaucher and Fabry disease 2011. 189p. ISBN 9789490371791. [UvA Dissertations Online] University of Amsterdam. (Supervisors: van Schaik I. N., Hollak C. E. M.; Co-supervisor: Aerts J. M. F. G.)
  • Smid B. E., Aerts J. M. F. G., Boot R. G., Linthorst G. E., Hollak C. E. M. Pharmacological small molecules for the treatment of lysosomal storage disorders (vol 19, pg 1367, 2010) Expert opinion on investigational drugs 2011;20 (2):309
  • Biegstraaten Marieke, van Schaik Ivo N., Hollak Carla E. M., Wieling Wouter, Linthorst Gabor E. Poikilothermia in a 38-year-old Fabry patient Clinical autonomic research 2011;21 (3):177-179 [PubMed]
  • Holleboom A. G., Kuivenhoven J. A., van Olden C. C., Peter J., Schimmel A. W., Levels J. H., Valentijn R. M., Vos P., Defesche J. C., Kastelein J. J. P., Hovingh G. K., Stroes E. S. G., Hollak C. E. M. Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase Atherosclerosis 2011;216 (1):161-165 [PubMed]
  • van Breemen Mariëlle J., Rombach Saskia M., Dekker Nick, Poorthuis Ben J., Linthorst Gabor E., Zwinderman Aeilko H., Breunig Frank, Wanner Christoph, Aerts Johannes M., Hollak Carla E. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2011;1812 (1):70-76 [PubMed]
  • Hughes Derralynn A., Barba Romero Miguel-Ángel, Hollak Carla E. M., Giugliani Roberto, Deegan Patrick B. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey Molecular genetics and metabolism 2011;103 (3):207-214 [PubMed]
  • Hollak Carla E. M. Short-term withdrawal from imiglucerase: What can we learn from it? Blood cells, molecules & diseases 2011;46 (1):105-106 [PubMed]
  • Anjema K., Venema G., Hofstede F. C., Carbasius Weber E. C., Bosch A. M., ter Horst N. M., Hollak C. E. M., Jonkers C. F., Rubio-Gozalbo M. E., van der Ploeg E. M. C., de Vries M. C., Janssen-Regelink R. G., Janssen M. C. H., Zweers-van Essen H., Boelen C. C. A., van der Herberg-van de Wetering N. A. P., Heiner-Fokkema M. R., van Rijn M. [=Margreet], van Spronsen F. J. The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration Molecular genetics and metabolism 2011;104 (Suppl):S60-S63 [PubMed]
  • Dekker Nick, Voorn-Brouwer Tineke, Verhoek Marri, Wennekes Tom, Narayan Ravi S., Speijer Dave, Hollak Carla E. M., Overkleeft Hermen S., Boot Rolf G., Aerts Johannes M. F. G. The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation Blood cells, molecules & diseases 2011;46 (1):19-26 [PubMed]
  • Biegstraaten Marieke, Binder Andreas, Maag Rainer, Hollak Carla E. M., Baron Ralf, van Schaik Ivo N. The relation between small nerve fibre function, age, disease severity and pain in Fabry disease European journal of pain (London, England) 2011;15 (8):822-829 [PubMed]

2010

  • Bouwman M. G., Hollak C. E. M., van den Bergh Weerman M. A., Wijburg F. A., Linthorst G. E. Analysis of Placental Tissue in Fabry Disease With and Without Enzyme Replacement Therapy Placenta 2010;31 (4):344-346 [PubMed]
  • de Ru M. H., Wijburg F. A., Aerts J. M. F. G., Post E. D. M., Hollak C. E. M. Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher Tijdschrift voor kindergeneeskunde 2010;78 (2):73-77
  • Biegstraaten Marieke, van Schaik Ivo N., Wieling Wouter, Wijburg Frits A., Hollak Carla E. M. Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests BMC neurology 2010;10 (1):38 [PubMed]
  • Hollak Carla E. M., vom Dahl Stephan, Aerts Johannes M. F. G., Belmatoug Nadia, Bembi Bruno, Cohen Yossi, Collin-Histed Tanya, Deegan Patrick, van Dussen Laura, Giraldo Pilar, Mengel Eugen, Michelakakis Helen, Manuel Jeremy, Hrebicek Martin, Parini Rosella, Reinke Jörg, Di Rocco Maja, Pocovi Miguel, Sa Miranda Maria Clara, Tylki-Szymanska Anna, Zimran Ari, Cox Timothy M. Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease Blood cells, molecules & diseases 2010;44 (1):41-47 [PubMed]
  • Hollak Carla E. M., Aerts Johannes M. F. G., Belmatoug Nadia, Bembi Bruno, Bodamer Olaf, Cappellini Domenica, Collin-Histed Tanya, Cox Timothy M., Deegan Patrick, Giraldo Pilar, Hughes Derralynn, Lukina Elena, Manuel Jeremy, Michelakakis Helen, Di Rocco Maja, Vellodi Ashok, Zimran Ari Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease Blood cells, molecules & diseases 2010;44 (2):86-87 [PubMed]
  • Bouwman M. G., Rombach S. M., Linthorst G. E., Hollak C. E. M., Aerts J. M. F. G., Wijburg F. A. Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry Tijdschrift voor kindergeneeskunde 2010;78 (2):69-73
  • Biegstraaten Marieke, Mengel Eugen, Maródi Laszlo, Petakov Milan, Niederau Claus, Giraldo Pilar, Hughes Derralyn, Mrsic Mirando, Mehta Atul, Hollak Carla E. M., van Schaik Ivo N. Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study Brain 2010;133 (Part 10):2909-2919 [PubMed]
  • Smid B. E., Aerts J. M. F. G., Boot R. G., Linthorst G. E., Hollak C. E. M. Pharmacological small molecules for the treatment of lysosomal storage disorders Expert opinion on investigational drugs 2010;19 (11):1367-1379 [PubMed]
  • Boot Rolf G., Hollak Carla E. M., Verhoek Marri, Alberts C., Jonkers René E., Aerts Johannes M. Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis Clinica chimica acta; international journal of clinical chemistry 2010;411 (1-2):31-36 [PubMed]
  • Rombach S. M., Dekker N. [=Nick], Bouwman M. G., Linthorst G. E., Zwinderman A. H., Wijburg F. A., Kuiper S., van den Bergh Weerman M. A., Groener J. E. M., Poorthuis B. J., Hollak C. E. M., Aerts J. M. F. G. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2010;1802 (9):741-748 [PubMed]
  • Linthorst G. E., Bouwman M. G., Wijburg F. A., Aerts J. M. F. G., Poorthuis B. J. H. M., Hollak C. E. M. Screening for Fabry disease in high-risk populations: a systematic review Journal of medical genetics 2010;47 (4):217-222 [PubMed]
  • Boomsma Jooske M. F., van Dussen Laura, Wiersma Maaike G., Groener Johanna E. M., Aerts Johannes M. F. G., Maas Mario, Hollak Carla E. M. Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study Blood cells, molecules & diseases 2010;44 (3):181-187 [PubMed]
  • Rombach Saskia M., Baas Marije C., ten Berge Ineke J. M., Krediet Raymond T., Bemelman Frederike J., Hollak Carla E. M. The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease Nephrology, dialysis, transplantation 2010;25 (8):2549-2556 [PubMed]
  • Witte Martin D., Kallemeijn Wouter W., Aten Jan, Li Kah-Yee, Strijland Anneke, Donker-Koopman Wilma E., van den Nieuwendijk Adrianus M. C. H., Bleijlevens Boris, Kramer Gertjan, Florea Bogdan I., Hooibrink Berend, Hollak Carla E. M., Ottenhoff Roelof, Boot Rolf G., van der Marel Gijsbert A., Overkleeft Herman S., Aerts Johannes M. F. G. Ultrasensitive in situ visualization of active glucocerebrosidase molecules Nature chemical biology 2010;6 (12):907-913 [PubMed]
  • Cox-Brinkman Josanne, van den Bergh Weerman Marius A., Wijburg Frits A., Aerts Johannes M. F. G., Florquin Sandrine, van der Lee Johanna H., Hollak Carla E. M. Ultrastructural Analysis of Dermal Fibroblasts in Mucopolysaccharidosis Type I: Effects of Enzyme Replacement Therapy and Hematopoietic Cell Transplantation Ultrastructural pathology 2010;34 (3):126-132 [PubMed]
  • Rombach S. M., Twickler Th B., Aerts J. M. F. G., Linthorst G. E., Wijburg F. A., Hollak C. E. M. Vasculopathy in patients with Fabry disease: Current controversies and research directions Molecular genetics and metabolism 2010;99 (2):99-108 [PubMed]

2009

  • Bussink Anton P., Verhoek Marri, Vreede Jocelyne, Ghauharali-van der Vlugt Karen, Donker-Koopman Wilma E., Sprenger Richard R., Hollak Carla E., Aerts Johannes M. F. G., Boot Rolf G. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates FEBS journal 2009;276 (19):5678-5688 [PubMed]
  • van Breemen M. J., de Fost M., Maas M., Wiersma M. G., Hollak C. E. M., Poll L. W., vom Dahl S., Boot R. G., Aerts J. M. F. G. Different dose-dependent correction of MIP-1beta and chitotriosidase during initial enzyme replacement therapy Journal of inherited metabolic disease 2009;32 (2):274-279 [PubMed]
  • Grabowski Gregory A., Kacena Katherine, Cole J. Alexander, Hollak Carla E. M., Zhang Lin, Yee John, Mistry Pramod K., Zimran Ari, Charrow Joel, vom Dahl Stephan Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 Genetics in medicine 2009;11 (2):92-100 [PubMed]
  • Hollak Carla E. M., de Fost Maaike, van Dussen Laura, vom Dahl Stephan, Aerts Johannes M. F. G. Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships Expert opinion on pharmacotherapy 2009;10 (16):2641-2652 [PubMed]
  • Boot Rolf G., van Breemen Mariëlle J., Wegdam Wouter, Sprenger Richard R., de Jong Shreyas, Speijer Dave, Hollak Carla E. M., van Dussen Laura, Hoefsloot Huub C. J., Smilde Age K., de Koster Chris G., Vissers Johannes P. C., Aerts Johannes M. F. G. Gaucher disease: a model disorder for biomarker discovery Expert review of proteomics 2009;6 (4):411-419 [PubMed]
  • Hollak C. E. M., Linthorst G. E. Immune response to enzyme replacement therapy in Fabry disease: Impact on clinical outcome? Molecular genetics and metabolism 2009;96 (1):1-3 [PubMed]
  • de Fost M., Langeveld M., Franssen R., Hutten B. A., Groener J. E. M., de Groot E., Mannens M. M., Bikker H., Aerts J. M. F. G., Kastelein J. J. P., Hollak C. E. M. Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease Atherosclerosis 2009;204 (1):267-272 [PubMed]
  • Hollak Carla E. M., Hughes Derralynn, van Schaik Ivo N., Schwierin Barbara, Bembi Bruno Miglustat (Zavesca(R)) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme Pharmacoepidemiology and drug safety 2009;18 (9):770-777 [PubMed]
  • Vedder Anouk C., Biró Eva, Aerts Johannes M. F. G., Nieuwland Rienk, Sturk Guus, Hollak Carla E. M. Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment Nephrology, dialysis, transplantation 2009;24 (10):3074-3081 [PubMed]
  • Langeveld Mirjam Studies on the role of glycosphingolipids in metabolism 2009. 204p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Aerts J. M. F. G., Hollak C. E. M.)

2008

  • Aerts Johannes M., van Breemen Marielle J., Bussink Anton P., Ghauharali Karen, Sprenger Richard, Boot Rolf G., Groener Johanna E., Hollak Carla E., Maas Mario, Smit Suzanne, Hoefsloot Huub C., Smilde Age K., Vissers Johannes Pc, de Jong Sheryas, Speijer Dave, de Koster Chris G. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease Acta paediatrica (Oslo, Norway 2008;97 (Suppl. 457):7-14 [PubMed]
  • Aerts Johannes M., Groener Johanna E., Kuiper Sijmen, Donker-Koopman Wilma E., Strijland Anneke, Ottenhoff Roelof, van Roomen Cindy, Mirzaian Mina, Wijburg Frits A., Linthorst Gabor E., Vedder Anouk C., Rombach Saskia M., Cox-Brinkman Josanne, Somerharju Pentti, Boot Rolf G., Hollak Carla E., Brady Roscoe O., Poorthuis Ben J. Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proceedings of the National Academy of Sciences of the United States of America 2008;105 (8):2812-2817 [PubMed]
  • Linthorst Gabor E., Poorthuis Ben J. H. M., Hollak Carla E. M. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results Journal of the American College of Cardiology 2008;51 (21):2082; author reply 2082-2082; author reply 2083 [PubMed]
  • Hollak C. E. M., Vedder A. C., Winchester B., Aerts J. M. F. G., Breunig F. Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose Molecular genetics and metabolism 2008;95 (4):239-240 [PubMed]
  • Vedder Anouk C. Fabry disease. Challenges in relation to optimization of enzyme replacement therapy 2008. 192p. ISBN 9789090226637. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Aerts J. M. F. G., ten Berge R. J. M.; Co-supervisor: Hollak C. E. M.)
  • de Fost Maaike Gaucher disease type 1; associated morbidities and long term efficcacy of enzyme replacement therapy 2008. 196p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Aerts Johannes M. F. G., van Oers Marinus H. J.; Co-supervisor: Hollak C. E. M.)
  • de Fost M., Out T. A., de Wilde F. A., Tjin E. P. M., Pals S. T., van Oers M. H. J., Boot R. G., Aerts J. F. M. G., Maas M., vom Dahl S., Hollak C. E. M. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature Annals of hematology 2008;87 (6):439-449 [PubMed]
  • Hollak C. E. M., Poorthuis B. J. H. M., Wijburg F. A. Klinisch denken en beslissen in de praktijk. Een 9-jarige jongen met een geïsoleerde splenomegalie Nederlands tijdschrift voor geneeskunde 2008;152 (2):116-7; author reply 117 [PubMed]
  • Brinkman J. Lysosomal storage disorders in childhood. Efficacy and timing of emerging therapies 2008. 208p. ISBN 9789090230641. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Aerts J. M. F. G.; Co-supervisor: Hollak C. E. M.)
  • Cox T. M., Aerts J. M. F. G., Belmatoug N., Cappellini M. D., vom Dahl S., Goldblatt J., Grabowski G. A., Hollak C. E. M., Hwu P., Maas M., Martins A. M., Mistry P. K., Pastores G. M., Tylki-Szymanska A., Yee J., Weinreb N. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring Journal of inherited metabolic disease 2008;31 (3):319-336 [PubMed]
  • Biegstraaten M., van Schaik I. N., Aerts J. M. F. G., Hollak C. E. M. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature Journal of inherited metabolic disease 2008;31 (3):337-349 [PubMed]
  • Langeveld M., de Fost M., Aerts J. M. F. G., Sauerwein H. P., Hollak C. E. M. Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy Blood cells, molecules & diseases 2008;40 (3):428-432 [PubMed]
  • de Fost Maaike, van Noesel Carel J. M., Aerts Johannes M. F. G., Maas Mario, Pöll Ruud G., Hollak Carla E. M. Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy Haematologica 2008;93 (7):1119-1120 [PubMed]
  • Groener J. E. M., Poorthuis B. J. H. M., Kuiper S., Hollak C. E. M., Aerts J. M. F. G. Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2008;1781 (1-2):72-78 [PubMed]
  • Cox-Brinkman J., van Breemen M. J., van Maldegem B. T., Bour L., Donker W. E., Hollak C. E. M., Wijburg F. A., Aerts J. M. F. G. Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III Journal of inherited metabolic disease 2008;31 (6):745-752 [PubMed]
  • Weinreb Neal J., Andersson Hans C., Banikazemi Maryam, Barranger John, Beutler Ernest, Charrow Joel, Grabowski Gregory A., Hollak Carla E. M., Kaplan Paige, Mankin Henry, Mistry Pramod K., Rosenbloom Barry E., vom Dahl Stephan, Zimran Ari Prevalence of type 1 Gaucher disease in the United States Archives of internal medicine 2008;168 (3):326-7; author reply 327-8 [PubMed]
  • Ghauharali-van der Vlugt Karen, Langeveld Mirjam, Poppema Aldi, Kuiper Sijmen, Hollak Carla E. M., Aerts Johannes M., Groener Johanna E. M. Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease Clinica chimica acta; international journal of clinical chemistry 2008;389 (1-2):109-113 [PubMed]
  • Vedder Anouk C., Breunig Frank, Donker-Koopman Wilma E., Mills Kevin, Young Elisabeth, Winchester Bryan, ten Berge Ineke J. M., Groener Johanna E. M., Aerts Johannes M. F. G., Wanner Christoph, Hollak Carla E. M. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3 Molecular genetics and metabolism 2008;94 (3):319-325 [PubMed]
  • Langeveld Mirjam, Ghauharali Karen J. M., Sauerwein Hans P., Ackermans Mariette T., Groener Johanna E. M., Hollak Carla E. M., Aerts Johannes M., Serlie Mireille J. Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance Journal of clinical endocrinology and metabolism 2008;93 (3):845-851 [PubMed]

2007

  • Hollak Carla E. M., Aerts Johannes M. F. G. Diagnosis and Laboratory Featuresin: Anthony Futerman, Ari Zimran, editors. Gaucher Disease. Boca Raton: CRC Press; 2007. p. 249-289, ISBN 9780849338168
  • Vedder A. C., Gerdes V. E. A., Poorthuis B. J. H. M., Helmond M., Trip M. D., Aerts J. M. F. G., Hollak C. E. M. Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males Journal of inherited metabolic disease 2007;30 (6):988 [PubMed]
  • Cox-Brinkman J., Timmermans R. G. M., Wijburg F. A., Donker W. E., van de Ploeg A. T., Aerts J. M. F. G., Hollak C. E. M. Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe Journal of inherited metabolic disease 2007;30 (6):984 [PubMed]
  • Groener Johanna E. M., Poorthuis Ben J. H. M., Kuiper Sijmen, Helmond Mariette T. J., Hollak Carla E. M., Aerts Johannes M. F. G. HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma Clinical chemistry 2007;53 (4):742-747 [PubMed]
  • Langeveld M., Endert E., Wiersinga W. M., Aerts J. M. F. G., Hollak C. E. M. Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels Journal of inherited metabolic disease 2007;30 (6):985 [PubMed]
  • van Breemen Marielle J., de Fost Maaike, Voerman Jane S. A., Laman Jon D., Boot Rolf G., Maas Mario, Hollak Carla E. M., Aerts Johannes M., Rezaee Farhad Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2007;1772 (7):788-796 [PubMed]
  • Hollak Carla E. M., de Fost Maaike, Aerts Johannes M. F. G., vom Dahl Stephan Low-dose versus high-dose therapy for Gaucher disease: Goals and markers Blood 2007;109 (1):387; author reply 387-387; author reply 388 [PubMed]
  • de Fost Maaike, Aerts Johannes M. F. G., Groener Johanna E. M., Maas Mario, Akkerman Erik M., Wiersma Maaike G., Hollak Carla E. M. Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial Haematologica 2007;92 (2):215-221 [PubMed]
  • Schoonhoven Aricha, Rudensky Bernard, Elstein Debbie, Zimran Ari, Hollak Carla E. M., Groener Johanna E., Aerts Johannes M. F. G. Monitoring of Gaucher patients with a novel chitotriosidase assay Clinica chimica acta; international journal of clinical chemistry 2007;381 (2):136-139 [PubMed]
  • Hollak Carla E. M., Vedder Anouk C., Linthorst Gabor E., Aerts Johannes M. F. G. Novel therapeutic targets for the treatment of Fabry disease Expert opinion on therapeutic targets 2007;11 (6):821-833 [PubMed]
  • Hughes Derralynn, Cappellini Maria Domenica, Berger Marc, van Droogenbroeck Jan, de Fost Maaike, Janic Dragana, Marinakis Theodore, Rosenbaum Hanna, Villarubia Jesús, Zhukovskaya Elena, Hollak Carla Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease British journal of haematology 2007;138 (6):676-686 [PubMed]
  • Cox-Brinkman J., Smeulders M. J. C., Hollak C. E. M., Wijburg F. A. Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy Journal of inherited metabolic disease 2007;30 (1):47-50 [PubMed]
  • Linthorst G. E., Vedder A. C., Hollak C. E. M., Bouma B. J., Dekker L. R. C. Screening for Fabry's disease in patients with cardiomyopathy - Comment Netherlands heart journal 2007;15 (7-8):278
  • Vedder A. C., Linthorst G. E., van Breemen M. J., Groener J. E. M., Bemelman F. J., Strijland A., Mannens M. M. A. M., Aerts J. M. F. G., Hollak C. E. M. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels Journal of inherited metabolic disease 2007;30 (1):68-78 [PubMed]
  • Cox-Brinkman Josanne, Vedder Anouk, Hollak Carla, Richfield Linda, Mehta Atul, Orteu Kate, Wijburg Frits, Hammond Peter Three-dimensional face shape in Fabry disease European journal of human genetics 2007;15 (5):535-542 [PubMed]
  • Vedder Anouk C., Linthorst Gabor E., Houge Gunnar, Groener Johannna E. M., Ormel Els E., Bouma Berto J., Aerts Johannes M. F. G., Hirth Asle, Hollak Carla E. M. Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg PLoS ONE 2007;2 (7):e598 [PubMed]
  • Langeveld Mirjam, Scheij Saskia, Dubbelhuis Peter, Hollak Carla E. M., Sauerwein Hans P., Simons Peter, Aerts Johannes M. F. G. Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia Metabolism: clinical and experimental 2007;56 (3):314-319 [PubMed]

2006

  • Boot Rolf G., Verhoek Marri, Langeveld Mirjam, Renkema G. Herma, Hollak Carla E. M., Weening Jan J., Donker-Koopman Wilma E., Groener Johanna E., Aerts Johannes M. F. G. CCL18: a urinary marker of Gaucher cell burden in Gaucher patients Journal of inherited metabolic disease 2006;29 (4):564-571 [PubMed]
  • Hollak C. E. M., Aerts J. M. F. G. Diagnosis and laboratory features in Gaucher diseasein: A. Zimran, T. Futerman, editors. Gaucher disease. S.l.: s.n.; 2006.
  • vom Dahl S., Hollak C., Rolfs A., Poll L., de Fost M., Brill N., Häussinger D. Dosierung der Enzymersatztherapie bei Morbus Gaucherin: S. vom Dahl, U. Wendel, G. Strohmeyer, editors. Genetische bedingte Stoffwechselerkrankungen. Behandlung, Kosten, sozial-medizinische Aspekte. Köln: Deutscher Ärzte-Verlag; 2006. p. 39-50, ISBN 9789787691052
  • Linthorst G. E. Fabry disease revisted. Clinical and laboratory studies at the advent of enzyme supplementation therapy 2006. 297p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Aerts J. M. F. G., van Oers M. H. J.; Co-supervisor: Hollak C. E. M.)
  • Linthorst Gabor E., Vedder Anouk C., Ormel Els E., Aerts Johannes M. F. G., Hollak Carla E. M. Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands Nephrology, dialysis, transplantation 2006;21 (2):355-360 [PubMed]
  • de Fost M., vom Dahl S., Weverling G. J., Brill N., Brett S., Häussinger D., Hollak C. E. M. Increased incidence of cancer in adult Gaucher disease in Western Europe Blood cells, molecules & diseases 2006;36 (1):53-58 [PubMed]
  • Vedder A. C., Strijland A., van den Bergh Weerman M. A., Florquin S., Aerts J. M. F. G., Hollak C. E. M. Manifestations of Fabry disease in placental tissue Journal of inherited metabolic disease 2006;29 (1):106-111 [PubMed]
  • Vedder A. C., Cox-Brinkman J., Hollak C. E. M., Linthorst G. E., Groener J. E. M., Helmond M. T. J., Scheij S., Aerts J. M. F. G. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy Molecular genetics and metabolism 2006;89 (3):239-244 [PubMed]
  • Maas M., Hollak C. E. M., Akkerman E. M., Aerts J. F. M. Radiology of Gaucher disease (type 1) and bone manifestations: the Dutch experience JBR-BTR 2006;89 (6):318-321 [PubMed]
  • Aerts Johannes M. F. G., Hollak Carla E. M., Boot Rolf G., Groener Johanna E. M., Maas Mario Substrate reduction therapy of glycosphingolipid storage disorders Journal of inherited metabolic disease 2006;29 (2-3):449-456 [PubMed]
  • de Fost Maaike, Hollak Carla E. M., Groener Johanna E. M., Aerts Johannes M. F. G., Maas Mario, Poll Ludger W., Wiersma Maaike G., Häussinger Dieter, Brett Sarah, Brill Nicole, vom Dahl Stephan Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis Blood 2006;108 (3):830-835 [PubMed]
  • Linthorst G. E., Vedder A. C., Bouma B. J., Dekker L. R. C., Hollak C. E. M. Unexplained left ventricular hypertrophy: consider a diagnosis of Fabry's disease Netherlands heart journal 2006;14 (3):100-ev

2005

  • Linthorst G. E., Hollak C. E. M. Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge: reply from authors British journal of dermatology 2005;152 (1):178-179
  • Danilov Sergei M., Deinum Jaap, Balyasnikova Irina V., Sun Zhu-Li, Kramers Cornelis, Hollak Carla E. M., Albrecht Ronald F. Detection of mutated angiotensin I-converting enzyme by serum/plasma analysis using a pair of monoclonal antibodies Clinical chemistry 2005;51 (6):1040-1043 [PubMed]
  • Aerts J. M. F. G., Hollak C. E. M., van Breemen M., Maas M., Groener J. E. M., Boot R. G. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases Acta paediatrica (Oslo, Norway 2005;94 (Suppl. 447):43-46; discussion 37-8 [PubMed]
  • Brinkman J., Wijburg F. A., Hollak C. E., Groener J. E., Verhoek M., Scheij S., Aten J., Boot R. G., Aerts J. M. Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease Journal of inherited metabolic disease 2005;28 (1):13-20 [PubMed]
  • Linthorst Gabor E., Vedder Anouk C., Aerts Johannes M. F. G., Hollak Carla E. M. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers Clinica chimica acta; international journal of clinical chemistry 2005;353 (1-2):201-203 [PubMed]
  • Aerts J. M. F. G., van Breemen M. J., Bussink A. P., Brinkman J., Hollak C. E. M., Langeveld M., Linthorst G. E., Vedder A. C., de Fost M. The blood-brain barrier and treatment of lysosomal storage disease INT CONGRESS SERIES 2005;1277:19-31
  • Hollak C. E. M., Boot R. G., Poorthuis B. J. H. M., Aerts J. M. F. G. Van gen naar ziekte; de ziekte van Gaucher Nederlands tijdschrift voor geneeskunde 2005;149 (39):2163-2166 [PubMed]

2004

  • Linthorst Gabor E., Hollak Carla E. M., Donker-Koopman Wilma E., Strijland Anneke, Aerts Johannes M. F. G. Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta Kidney international 2004;66 (4):1589-1595 [PubMed]
  • Weinreb Neal J., Aggio Mario C., Andersson Hans C., Andria Generoso, Charrow Joel, Clarke Joe T. R., Erikson Anders, Giraldo Pilar, Goldblatt Jack, Hollak Carla, Ida Hiroyuki, Kaplan Paige, Kolodny Edwin H., Mistry Pramod, Pastores Gregory M., Pires Ricardo, Prakash-Cheng Ainu, Rosenbloom Barry E., Scott C. Ronald, Sobreira Elisa, Tylki-Szymańska Anna, Vellodi Ashok, vom Dahl Stephan, Wappner Rebecca S., Zimran Ari Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients Seminars in hematology 2004;41 (4 Suppl 5):15-22 [PubMed]
  • de Koning T. J., Hollak C. E. M., Wijburg F. A., Willemsen M. A. A. P., van der Ploeg A. T. Groener gras Medisch contact 2004;59:1322-1323
  • Boot Rolf G., Verhoek Marri, de Fost Maaike, Hollak Carla E. M., Maas Mario, Bleijlevens Boris, van Breemen Marielle J., van Meurs Marjan, Boven Leonie A., Laman Jon D., Moran Mary Teresa, Cox Timothy M., Aerts Johannes M. F. G. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention Blood 2004;103 (1):33-39 [PubMed]
  • Linthorst G. E., de Rie M. A., Tjiam K. H., Aerts J. M. F. G., Dingemans K. P., Hollak C. E. M. Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion British journal of dermatology 2004;150 (3):575-577 [PubMed]
  • Møller Holger Jon, de Fost Maaike, Aerts Hans, Hollak Carla, Moestrup Søren Kragh Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease European journal of haematology 2004;72 (2):135-139 [PubMed]
  • Elstein D., Hollak C., Aerts J. M. F. G., van Weely S., Maas M., Cox T. M., Lachmann R. H., Hrebicek M., Platt F. M., Butters T. D., Dwek R. A., Zimran A. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease Journal of inherited metabolic disease 2004;27 (6):757-766 [PubMed]

2003

  • Linthorst Gabor E., Hollak Carla E. M., Korevaar Johanna C., van Manen Jeanette G., Aerts Johannes M. F. G., Boeschoten Els W. alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease Nephrology, dialysis, transplantation 2003;18 (8):1581-1584 [PubMed]
  • Groener J. E. M., Hollak C. E. M., Bakker H. D., Boot R. G., Aerts J. M. F. G. Behandeling van patiénten met de ziekte van Gaucher aan de hand van chemische ziektemarkers Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2003;28:352-355
  • Aerts Johannes M., Hollak Carla, Boot Rolf, Groener Ans Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2003;358 (1433):905-914 [PubMed]
  • Linthorst Gabor E., Folman Claudia C., Aerts Johannes M. F. G., Hollak Carla E. M. Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency) Blood cells, molecules & diseases 2003;31 (3):324-326 [PubMed]
  • Linthorst Gabor E., Hollak Carla E. M. Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease Human pathology 2003;34 (12):1358-1358; author reply 1359 [PubMed]
  • Bengtsson Bengt-Ake, Johansson Jan-Ove, Hollak Carla, Linthorst Gabor, FeldtRasmussen Ulla Enzyme replacement in Anderson-Fabry disease Lancet 2003;361 (9354):352 [PubMed]
  • Linthorst G. E., Hollak C. E. M. Europese verordening inzake weesgeneesmiddelen: kansen en bedreigingen Nederlands tijdschrift voor geneeskunde 2003;147 (4):143-145 [PubMed]
  • de Fost M., Aerts J. M. F. G., Hollak C. E. M. Gaucher disease: from fundamental research to effective therapeutic interventions Netherlands journal of medicine 2003;61 (1):3-8 [PubMed]
  • Aerts J. M. F. G., Hollak C. E. M., Boot R. G., Groener A. Macrofages as therapeutic targets in lysosomal storage disordersin: S. Gordon, editors. The macrophage as therapeutic target. Berlin Heidelberg: Springer; 2003. p. 193-208, ISBN 9783540442509
  • Maas Mario, van Kuijk Cornelis, Stoker Jaap, Hollak Carla E. M., Akkerman Erik M., Aerts Johannes F. M. G., den Heeten Gerard J. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to dixon quantitative chemical shift MR imaging - Initial experience Radiology 2003;229 (2):554-561 [PubMed]
  • Cox T. M., Aerts J. M. F. G., Andria G., Beck M., Belmatoug N., Bembi B., Chertkoff R., vom Dahl S., Elstein D., Erikson A., Giralt M., Heitner R., Hollak C., Hrebicek M., Lewis S., Mehta A., Pastores G. M., Rolfs A., Sá Miranda M. C., Zimran A. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement Journal of inherited metabolic disease 2003;26 (6):513-526 [PubMed]

2002

  • van Noesel Carel J. M., de Wit Mireille, Hollak Carla E. M. Graft-versus-host disease: the face of the aggressor British journal of haematology 2002;118 (4):932 [PubMed]
  • Maas Mario, Hollak Carla E. M., Akkerman Erik M., Aerts Johannes M. F. G., Stoker Jaap, den Heeten Gerard J. Quantification of skeletal involvement in adults with type I Gaucher's disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter AJR. American journal of roentgenology 2002;179 (4):961-965 [PubMed]
  • Vlieger Erik-Jan P., Maas Mario, Akkerman Erik M., Hollak Carla E. M., den Heeten Gerard J. Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease Journal of computer assisted tomography 2002;26 (5):843-848 [PubMed]

2001

  • Hollak C. E., Maas M., Aerts J. M. Clinically relevant therapeutic endpoints in type I Gaucher disease Journal of inherited metabolic disease 2001;24 (Suppl. 2):97-105; discussion 87-8 [PubMed]
  • Linthorst G. E., Hollak C. E. M., Heymans H. S. A., Aerts J. M. F. G. De ziekte van Fabry: etiologie, kliniek en behandeling. Nederlands tijdschrift voor dermatologie en venereologie 2001;11:7-9
  • Hollak C., Maas M., Akkerman E., den Heeten A., Aerts H. Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease Blood cells, molecules & diseases 2001;27 (6):1005-1012 [PubMed]
  • Platt F. M., Jeyakumar M., Andersson U., Priestman D. A., Dwek R. A., Butters T. D., Cox T. M., Lachmann R. H., Hollak C., Aerts J. M., van Weely S., Hrebícek M., Moyses C., Gow I., Elstein D., Zimran A. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy Journal of inherited metabolic disease 2001;24 (2):275-290 [PubMed]

2000

  • Linthorst G. E., Hollak C. E., Bosman D. K., Heymans H. S., Aerts J. M. De ziekte van Fabry: op weg naar een behandeling Nederlands tijdschrift voor geneeskunde 2000;144 (50):2391-2395 [PubMed]
  • Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebícek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D., Zimran A. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Lancet 2000;355 (9214):1481-1485 [PubMed]
  • Maaswinkel-Mooij P., Hollak C., van Eysden-Plaisier M., Prins M. [=Martin H.], Aerts H., Pöll R. The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations Journal of inherited metabolic disease 2000;23 (1):77-82 [PubMed]

1999

  • Aerts J. M. F. G., Boot R. G., Blommaart E. F. C., Renkema G. H., van Weely S., Hollak C. E. M. Chitotriosidase: applications and features of the enzyme Gaucher clinical perspectives 1999;7:4-8
  • Erjavec Z., Hollak C. E., de Vries E. G. Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy Annals of oncology 1999;10 (2):243 [PubMed]

1998

  • Hollak C. E., Aerts J. M., van Oers M. H. Alglucerase: practical guidance on appropriate dosage and administration in patients with Gaucher disease BioDrugs 1998;9 (1):11-23 [PubMed]
  • de Jong J. G., Aerts J. M., van Weely S., Hollak C. E., van Pelt J., van Woerkom L. M., Liebrand-van Sambeek M. L., Wevers R. A. Oligosaccharide excretion in adult Gaucher disease Journal of inherited metabolic disease 1998;21 (1):49-59 [PubMed]

1997

  • Hollak C. E., Levi M. [=Marcel M.], Berends F., Aerts J. M., van Oers M. H. Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy British journal of haematology 1997;96 (3):470-476 [PubMed]
  • Hollak C. E., Corssmit E. P., Aerts J. M., Endert E., Sauerwein H. P., Romijn J. A., van Oers M. H. Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease American journal of medicine 1997;103 (3):185-191 [PubMed]
  • Hollak C. E., Evers L., Aerts J. M., van Oers M. H. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease Blood cells, molecules & diseases 1997;23 (2):201-212 [PubMed]
  • Boot R. G., Hollak C. E., Verhoek M., Sloof P., Poorthuis B. J., Kleijer W. J., Wevers R. A., van Oers M. H., Mannens M. M., Aerts J. M., van Weely S. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value Human mutation 1997;10 (5):348-358 [PubMed]
  • Aerts J. M., Hollak C. E. Plasma and metabolic abnormalities in Gaucher's disease Baillière s clinical haematology 1997;10 (4):691-709 [PubMed]

1996

  • Wiltink E. H., Hollak C. E. Alglucerase (Ceredase) Pharmacy world & science 1996;18 (1):16-19 [PubMed]
  • Hollak C. E., van Oers M. H., Maaswinkel P., Aerts J. M., Goudsmit R. Behandeling van de ziekte van Gaucher in Nederland met enzymvervangingstherapie Nederlands tijdschrift voor geneeskunde 1996;140 (19):1011-1013 [PubMed]
  • Aerts J. M. F. G., Boot R. G., Renkema G. H., van Weely S., Hollak C. E. M., Donker-Koopman W. E., Strijland A., Verhoek M. Chitotriosidase: a human macrophage chitinase that is a marker for Gaucher disease manifestation.in: R. A. A. Muzzarelli, editors. Chitin Enzymology vol. 2. Ancona, Italy: Atec Edizioni; 1996. p. 3-10
  • Hollak C. E. M. Gaucher Disease. Clinical and laboratory studies in relation to enzyme supplementation therapy. 1996. 218p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Goudsmit R., von dem Borne A. E. G. K.; Co-supervisors: van Oers M. H. J., Aerts J. M. F. G.)
  • Hollak C. E., Goudsmit R., van Oers M. H. Low-dose versus high-frequency regimens in Gaucher's disease Lancet 1996;347 (8998):406-407 [PubMed]
  • Michelakakis H., Spanou C., Kondyli A., Dimitriou E., van Weely S., Hollak C. E., van Oers M. H., Aerts J. M. Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1996;1317 (3):219-222 [PubMed]
  • Bosman D. K., Hollak C. E., Aerts J. M., Bakker H. D. The effect of enzyme therapy in a patient with Gaucher disease type III Journal of inherited metabolic disease 1996;19 (5):703-704 [PubMed]

1995

  • Guo Y., He W., Boer A. M., Wevers R. A., de Bruijn A. M., Groener J. E., Hollak C. E., Aerts J. M., Galjaard H., van Diggelen O. P. Elevated plasma chitotriosidase activity in various lysosomal storage disorders Journal of inherited metabolic disease 1995;18 (6):717-722 [PubMed]
  • Corssmit E. P., Hollak C. E., Endert E., van Oers M. H., Sauerwein H. P., Romijn J. A. Increased basal glucose production in type 1 Gaucher's disease Journal of clinical endocrinology and metabolism 1995;80 (9):2653-2657 [PubMed]
  • Hollak C. E., Aerts J. M., Goudsmit R., Phoa S. S., Ek M., van Weely S., von dem Borne A. E., van Oers M. H. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease Lancet 1995;345 (8963):1474-1478 [PubMed]
  • Duursma S. A., Aerts J. M. F. G., Belmatoug N., Cox T. M., Einhorn T. A., Esplin J. A., Hollak C. E. M., Incerti C., Pastores G. M., Rademakers R. P., Zaizov R. Management of Gaucher disease. Current status and future directions: A roundtable discussion. Seminars in hematology 1995;32 (suppl. 1):45-52
  • Aerts J. M. F. G., Boot R. G., Renkema G. H., van Weely S., Jones S., Hollak C. E. M., van Oers M. H. J. Molecular and biochemical abnormalities of Gaucher disease. Chitotriosidase, a newly identified biochemical marker. Seminars in hematology 1995;32 (suppl. 1):10-13

1994

  • Hollak C. E., van Weely S., van Oers M. H., Aerts J. M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease Journal of clinical investigation 1994;93 (3):1288-1292 [PubMed]

1993

  • Hollak C. E. M., Aerts J. M. F. G., van Oers M. H. J. Enzyme replacement therapy for type 1 Gaucher disease: experience with low-dose schedules of alglucerase Gaucher clinical perspectives 1993;1:12-13
  • Zimran A., Hollak C. E., Abrahamov A., van Oers M. H., Kelly M., Beutler E. Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients Blood 1993;82 (4):1107-1109 [PubMed]
  • Aerts J. M., van Weely S., Boot R., Hollak C. E., Tager J. M. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease Journal of inherited metabolic disease 1993;16 (2):288-291 [PubMed]
  • Hollak C. E., Aerts J. M., van Oers M. H. Treatment of Gaucher's disease New England journal of medicine 1993;328 (21):1565-6; author reply 1567 [PubMed]

1991

  • Hollak C. E., Prummel M. F., Tiel-van Buul M. M. Bilateral adrenal tumours in primary aldosteronism: localization of a unilateral aldosteronoma by dexamethasone suppression scan Journal of internal medicine 1991;229 (6):545-548 [PubMed]
  • Hollak C. E., Aerts J. M., Goudsmit R. De ziekte van Gaucher; nieuwe ontwikkelingen in de behandeling van lysosomale stapelingsziekten Nederlands tijdschrift voor geneeskunde 1991;135 (46):2162-2164 [PubMed]
  • Portegies P., Algra P. R., Hollak C. E., Prins J. M., Reiss P., Valk J., Lange J. M. Response to cytarabine in progressive multifocal leucoencephalopathy in AIDS Lancet 1991;337 (8742):680-681 [PubMed]

1990

  • Lange J. M., Boucher C. A., Hollak C. E., Wiltink E. H., Reiss P., van Royen E. A., Roos M., Danner S. A., Goudsmit J. Failure of zidovudine prophylaxis after accidental exposure to HIV-1 New England journal of medicine 1990;322 (19):1375-1377 [PubMed]
  • Lange J. M. A., Hollak C. E. M., Reiss P. FAILURE OF ZIDOVUDINE PROPHYLAXIS AFTER EXPOSURE TO HIV-1 - REPLY New England journal of medicine 1990;323 (13):916
  • Hollak C. E., Kersten M. J., van der Lelie J., Lange J. M. Thrombocytopenic purpura as first manifestation of human immunodeficiency virus type I (HIV-1) infection Netherlands journal of medicine 1990;37 (1-2):63-68 [PubMed]

1988

  • Hollak C. E., Hoogendijk W. J., Griffioen F. M., OOSTING I. J. Anthropometric study of Dominican pre-school children Journal of tropical pediatrics 1988;34 (1):42-48 [PubMed]
  • Hoogendijk W. J., Hollak C. E., Griffioen F. M., Oosting J., Hart A. A. Application of methods used in survival analysis to growth and nutritional studies Growth, development, and aging 1988;52 (4):161-167 [PubMed]