G.E. Linthorst MD PhD publications

foto

Publications MD PhD G.E. Linthorst

Position
Medical Specialist
Main activities
Education, Patient care
Specialisation
Medical Education
Focus of research

Medical Edcucation

2020

  • Linthorst Gabor E. PSCK9-remmers en mortaliteit na recent acuut coronair syndroom Nederlands tijdschrift voor geneeskunde 2020;164 (4)
  • Linthorst Gabor E. Schildklierfunctiestoornissen en risico op vroeggeboorte Nederlands tijdschrift voor geneeskunde 2020;164 (8)
  • Thijs Abel, Linthorst Gabor E. Zeldzame ziekten sneller diagnosticeren, kan dat? Nederlands tijdschrift voor geneeskunde 2020;164 (19) [PubMed]

2019

  • Achterbergh Louis, Suurmond Jeanine, Linthorst Gabor E. Respectvol etnisch profileren in de zorg Nederlands tijdschrift voor geneeskunde 2019;163 (Maart 1):1-3
  • Huffnagel Irene C., Laheji Fiza K., Aziz-Bose Razina, Tritos Nicholas A., Marino Rose, Linthorst Gabor E., Kemp Stephan, Engelen Marc, Eichler Florian The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: An international collaboration Journal of clinical endocrinology and metabolism 2019;104 (1):118-126 [PubMed]
  • Linthorst Gabor E., van Lieshout Miriam H. P. Thyroïdectomie bij ziekte van Hashimoto? Nederlands tijdschrift voor geneeskunde 2019;163 (39)
  • 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

  • de Geus K. F., Anas A. A., Franssen R., Duijkers F. A. M., Bikker H., Linthorst G. E. Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels Netherlands journal of medicine 2018;76 (4):194-197

2017

  • 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]
  • de Vries-Erich Joy, Spaai Gerard, Vos Jacqueline, de Crom Kim, Sijstermans Tim, Verheijck Etienne, Linthorst Gabor, Boerboom Tobias Ervaringen met Team-Based learning OnderwijsInnovatie 2017;2017 (2):13-15
  • Suntjens E., Dreschler W. A., Hess-Erga J., Skrunes R., Wijburg F. A., Linthorst G. E., Tøndel C., Biegstraaten M. Hearing loss in children with Fabry disease Journal of inherited metabolic disease 2017;40 (5):725-731 [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]

2016

  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., van Daele P.L.A. 10. De buikin: Anamnese en lichamelijk onderzoek. 2016. p. 133-51
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., Valk G.D. 11. Genitaliën en rectumin: Anamnese en lichamelijk onderzoek. 2016. p. 153-160
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 12. De extremiteitenin: Anamnese en lichamelijk onderzoek. 2016. p. 161-169
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 13. De gewrichtenin: Anamnese en lichamelijk onderzoek. 2016. p. 171-184
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., van Kooten F. 14. Het neurologisch onderzoekin: Anamnese en lichamelijk onderzoek. 2016. p. 185-205
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., de Vries O.J. 15. De geriatrische patiëntin: Anamnese en lichamelijk onderzoek. 2016. p. 207-219
  • van der Meer J., van der Meer J. W. M. , Linthorst Gabor E., Postma C. T., Blockmans D. E. 16. Veelvoorkomende klachtenin: J. W. M. van der Meer, J. van der Meer, G. Linthorst, C. T. Postma, D. Blockmans, editors. Anamnese en lichamelijk onderzoek. Houten: Bohn Stafleu Van Loghum; 2016. p. 221-275, ISBN 9789036810791
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 17. Het patiëntendossierin: Anamnese en lichamelijk onderzoek. 2016. p. 277-280
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 18. De samenvatting van het onderzoekin: Anamnese en lichamelijk onderzoek. 2016. p. 281-286
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 1. De patiënt-artsrelatiein: Anamnese en lichamelijk onderzoek. 2016. p. 13-15
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 2. Het diagnostisch procesin: Anamnese en lichamelijk onderzoek. 2016. p. 17-20
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 3. De anamnese: algemene principesin: Anamnese en lichamelijk onderzoek. 2016. p. 21-27
  • West Michael, Linthorst Gabor 49. Fabry Diseasein: Carla E. M. Hollak, Robin H. Lachmann, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016. p. 317-323
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 4. De anamnese gericht op de hoofdklachtin: Anamnese en lichamelijk onderzoek. 2016. p. 29-33
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 5. De algemene anamnesein: Anamnese en lichamelijk onderzoek. 2016. p. 35-39
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 6. Methoden van het lichamelijk onderzoekin: Anamnese en lichamelijk onderzoek. 2016. p. 41-63
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E. 7. Het algemeen onderzoekin: Anamnese en lichamelijk onderzoek. 2016. p. 65-81
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., Koopmans R.P. 8. Hoofd en halsin: Anamnese en lichamelijk onderzoek. 2016. p. 83-96
  • van der Meer J., van der Meer J.W.M. , Linthorst Gabor E., Postma C.T., Blockmans D. E., Munthinghe F.L.H. 9. De thoraxin: Anamnese en lichamelijk onderzoek. 2016. p. 97-131
  • Kemp Stephan, Huffnagel Irene C., Linthorst Gabor E., Wanders Ronald J., Engelen Marc Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history Nature reviews. Endocrinology 2016;12 (10):606-615 [PubMed]
  • van der Meer J.W.M. , van der Meer J., Linthorst Gabor E., Postma C.T., Blockmans D. Anamnese en lichamelijk onderzoekHouten: Bohn Stafleu Van Loghum; 2016. 292p. ISBN 9789036810791
  • 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]
  • 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]
  • 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]

2015

  • 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]
  • Leijssen Lieve G. J., Linthorst Gabor E., Geukers Vincent G., Ploem M. C. Corrette De 'interessante casus' en patiëntprivacy: Omgaan met patiëntgegevens in het medisch onderwijs Nederlands tijdschrift voor geneeskunde 2015;159:A9458 [PubMed]
  • 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]
  • 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]
  • 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]
  • 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]
  • Germain Dominique P., Charrow Joel, Desnick Robert J., Guffon Nathalie, Kempf Judy, Lachmann Robin H., Lemay Roberta, Linthorst Gabor E., Packman Seymour, Scott C. Ronald, Waldek Stephen, Warnock David G., Weinreb Neal J., Wilcox William R. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease Journal of medical genetics 2015;52 (5):353-358 [PubMed]
  • Bigger Brian W., Saif Muhammad, Linthorst Gabor E. The role of antibodies in enzyme treatments and therapeutic strategies Best practice & research. Clinical endocrinology & metabolism 2015;29 (2):183-194 [PubMed]
  • de Fost M., Oussaada S. M., Endert E., Linthorst G. E., Serlie M. J., Soeters M. R., DeVries J. H., Bisschop P. H., Fliers E. The water deprivation test and a potential role for the arginine vasopressin precursor copeptin to differentiate diabetes insipidus from primary polydipsia Endocrine connections 2015;4 (2):86-91 [PubMed]

2014

  • van der Meer J. W. M., van der Meer J., Linthorst G. E., Postma C. T., Blockmans D. Anamnese en lichamelijk onderzoekAmsterdam: Reed Business Amsterdam; 2014. 292p. ISBN 9789035237926
  • 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]
  • Linthorst Gabor E., Lauw Fanny N., Hanekamp Lilian A., Hoekstra Joost B. L. Een klacht bij het tuchtcollege tegen een aios Nederlands tijdschrift voor geneeskunde 2014;158 (3):A6464 [PubMed]
  • Berendse Kevin, Engelen Marc, Linthorst Gabor E., van Trotsenburg A. S. Paul, Poll-The Bwee Tien High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders Orphanet journal of rare diseases 2014;9:133 [PubMed]
  • van der Meer J. W. M., van der Meer J., Linthorst G. E., Postma C. T., Blockmans D. E. Hoordstuk 1 t/m 18in: J. W. M. van der Meer, J. van der Meer, G. E. Linthorst, C. T. Postma, D. Blockmans, editors. Anamnese en lichamelijk onderzoek. Amsterdam: Reed Business Amsterdam; 2014. p. 13-283, ISBN 9789035237926
  • 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]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., de Visser M. Rhabdomyolysis: review of the literature Neuromuscular disorders 2014;24 (8):651-659 [PubMed]
  • Van Banning E. P. M., Linthorst G. E. Samenwerken en verwijzenin: H. G. Grundmeijer, G. E. Rutten, R. A. Damoiseaux, editors. Het geneeskundig proces : Klinisch redeneren van klacht naar therapie. Maarssen: Elsevier gezondheidszorg; 2014. p. 251-285, ISBN 9789035238008
  • 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]
  • 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]
  • Langereis E. J., van den Berg I. E. T., Halley D. J. J., Poorthuis B. J. H. M., Vaz F. M., Wokke J. H. J., Linthorst G. E. Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process JIMD reports 2013;9:117-120 [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]
  • 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]
  • Gold Henrik, Mirzaian Mina, Dekker Nick, Joao Ferraz Maria, Lugtenburg Johan, Codée Jeroen D. C., van der Marel Gijs A., Overkleeft Herman S., Linthorst Gabor E., Groener Johanna E. M., Aerts Johannes M., Poorthuis Ben J. H. M. Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry Clinical chemistry 2013;59 (3):547-556 [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]

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]
  • Wilcox William R., Linthorst Gabor E., Germain Dominique P., Feldt-Rasmussen Ulla, Waldek Stephen, Richards Susan M., Beitner-Johnson Dana, Cizmarik Marta, Cole J. Alexander, Kingma Wytske, Warnock David G. Anti-alpha-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry Molecular genetics and metabolism 2012;105 (3):443-449 [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
  • 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.)
  • 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
  • Linthorst G. E., Ginsberg L. Prevalence of Fabry disease in TIA/stroke cohorts. What defines Fabry disease? European journal of neurology 2012;19 (11):1383-1384 [PubMed]
  • 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]
  • Warnock David G., Ortiz Alberto, Mauer Michael, Linthorst Gabor E., Oliveira João P., Serra Andreas L., Maródi László, Mignani Renzo, Vujkovac Bojan, Beitner-Johnson Dana, Lemay Roberta, Cole J. Alexander, Svarstad Einar, Waldek Stephen, Germain Dominique P., Wanner Christoph Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation Nephrology, dialysis, transplantation 2012;27 (3):1042-1049 [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]
  • Linthorst G. E., Kallimanis-King B. L., Douwes Dekker I., Hoekstra J. B. L., de Haes J. C. J. M. What contributes to internists' willingness to disclose medical errors? Netherlands journal of medicine 2012;70 (5):242-248 [PubMed]
  • Scheltema Matthijs J. V., Soeters Maarten R., Linthorst Gabor E. Zeldzame aandoeningen als onderzoeksmodel Nederlands tijdschrift voor geneeskunde 2012;156 (17):A4223 [PubMed]

2011

  • 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]
  • Hazenberg M. D., Biemond B. J., Pals S. T., Zumpolle C. M., Schinkel C. J., Linthorst G. E., Hoekstra J. B. L., Vos J. M. I. Clinical pathological conference: a non-Hodgkin's lymphoma patient with persistent anaemia after chemotherapy Netherlands journal of medicine 2011;69 (10):469-473 [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]
  • Bouwman M. G., Rombach S. M., Linthorst G. E., Poorthuis B. J. H. M., Deprez R. H. Lekanne, Aerts J. M. F. G., Wijburg F. A. Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation Clinical genetics 2011;80 (5):500-502 [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]
  • 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]
  • Linthorst Gabor E., Aerts Johannes M. F. G. Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al Journal of inherited metabolic disease 2011;34 (1):237-238 [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 (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]
  • 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]
  • Lauw M. N., Hoekstra J. B. L., Linthorst G. E. The success of a weekly medical quiz. Test-based medical education Netherlands journal of medicine 2011;69 (4):205-206 [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]
  • Bouwman Machtelt G., Teunissen Quirine G. A., Wijburg Frits A., Linthorst Gabor E. 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases Archives of disease in childhood 2010;95 (8):642-U96 [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
  • 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]
  • 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]
  • Wanner Christoph, Oliveira João P., Ortiz Alberto, Mauer Michael, Germain Dominique P., Linthorst Gabor E., Serra Andreas L., Maródi László, Mignani Renzo, Cianciaruso Bruno, Vujkovac Bojan, Lemay Roberta, Beitner-Johnson Dana, Waldek Stephen, Warnock David G. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry Clinical journal of the American Society of Nephrology 2010;5 (12):2220-2228 [PubMed]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., Verschuuren J. J. G. M., de Visser M. Recidiverende rabdomyolyse: zoek naar de onderliggende aandoening Nederlands tijdschrift voor geneeskunde 2010;154 (43):A2290 [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]
  • Linthorst Gabor E., Avis Hans J., Levi Marcel Uremic thrombocytopathy is not about urea Journal of the American Society of Nephrology 2010;21 (5):753-755 [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

  • Schiffmann Raphael, Warnock David G., Banikazemi Maryam, Bultas Jan, Linthorst Gabor E., Packman Seymour, Sorensen Sven Asger, Wilcox William R., Desnick Robert J. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrology, dialysis, transplantation 2009;24 (7):2102-2111 [PubMed]
  • Bolmers Mattheus D. M., Linthorst Gabor E., Soeters Maarten R., Nio Yung C., van Lieshout Johannes J. Green urine, but no infection Lancet 2009;374 (9700):1566 [PubMed]
  • Linthorst Gabor E., Torrenga Rudolf A., Hoekstra Joost B. L. Het bespreken van medische fouten met de patiënt Nederlands tijdschrift voor geneeskunde 2009;153 (8):361-363 [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]

2008

  • 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]
  • Linthorst Gabor E., de Metz Jesse Global warming could affect outpatient attendance Lancet 2008;371 (9611):474 [PubMed]

2007

  • 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]
  • 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]
  • Linthorst Gabor E., Daniels Johannes M. A., van Westerloo David J. The majority of bold statements expressed during grand rounds lack scientific merit Medical education 2007;41 (10):965-967 [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]

2006

  • 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]
  • Linthorst G. E., Ploem M. C. Hulpverlening door artsen aan boord van een vliegtuig Nederlands tijdschrift voor geneeskunde 2006;150 (12):660-664 [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]
  • 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
  • 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

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]
  • Wilcox William R., Banikazemi Maryam, Guffon Nathalie, Waldek Stephen, Lee Philip, Linthorst Gabor E., Desnick Robert J., Germain Dominique P. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease American journal of human genetics 2004;75 (1):65-74 [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]
  • Verovnik Franc, Benko Davorin, Vujkovac Bojan, Linthorst Gabor E. Remarkable variability in renal disease in a large Slovenian family with Fabry disease European journal of human genetics 2004;12 (8):678-681 [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]
  • 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]
  • Blom Daniël, Speijer Dave, Linthorst Gabor E., Donker-Koopman Wilma G., Strijland Anneke, Aerts Johannes M. F. G. Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA American journal of human genetics 2003;72 (1):23-31 [PubMed]

2002

  • Linthorst Gabor E., Folman Claudia C., van Olden Rudolf W., von dem Borne Albert E. G. Kr Plasma thrombopoietin levels in patients with chronic renal failure hematology journal 2002;3 (1):38-42 [PubMed]
  • von dem Borne A., Folman C., van den Oudenrijn S., Linthorst G., de Jong S., de Haas M. The potential role of thrombopoietin in idiopathic thrombocytopenic purpura Blood reviews 2002;16 (1):57-59 [PubMed]

2001

  • 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
  • Eng C. M., Guffon N., Wilcox W. R., Germain D. P., Lee P., Waldek S., Caplan L., Linthorst G. E., Desnick R. J. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease New England journal of medicine 2001;345 (1):9-16 [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]
  • Folman C. C., Linthorst G. E., van Mourik J., van Willigen G., de Jonge E., Levi M. [=Marcel M.], de Haas M., von dem Borne A. E. Platelets release thrombopoietin (Tpo) upon activation: another regulatory loop in thrombocytopoiesis? Thrombosis and haemostasis 2000;83 (6):923-930 [PubMed]

1999

  • Cremer M., Schulze H., Linthorst G., Folman C. C., Wehnert S., Strauss G., von dem Borne A. E., Welte K., Ballmaier M. Serum levels of thrombopoietin, IL-11, and IL-6 in pediatric thrombocytopenias Annals of hematology 1999;78 (9):401-407 [PubMed]

1998

  • von dem Borne A. E., Folman C., Linthorst G. E., Porcelijn L., van den Oudenrijn S., van der Schoot E., de Haas M. Thrombopoietin and its receptor: structure, function and role in the regulation of platelet production Baillière s clinical haematology 1998;11 (2):409-426 [PubMed]
  • von dem Borne A. E., Folman C., Linthorst G. E., Porcelijn L., van den Oudenrijn S., van der Schoot E., de Haas M. Thrombopoietin: its role in platelet disorders and as a new drug in clinical medicine Baillière s clinical haematology 1998;11 (2):427-445 [PubMed]