Dr. G.E. Linthorst MD publications

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Publications Dr. G.E. Linthorst MD

Position
Scientific staff member (UD)
Main activities
Teaching, Patient care
Specialisation
Medical Education
Focus of research

Medical Edcucation

2019

  • Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F, The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. J CLIN ENDOCR METAB 2019;104 (1):118-126 [PubMed]

2018

  • Canté C, van der Hoeven N, Linthorst G, Geerlings S, Onderwijsstage goed voor aios en instituut: Internistenopleiding AMC legt de basis voor een leven lang onderwijzen. MED CONTACT 2018;73 (20):32-33
  • de Geus KF, Anas AA, Franssen R, Duijkers FAM, Bikker H, Linthorst GE, Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels. NETH J MED 2018;76 (4):194-197 [PubMed]
  • van Vugt M, Linthorst GE, Studeren in het buitenland. NED TIJDSCHR GENEESKD 2018;ahead of print [PubMed]

2017

  • Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE, Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J AM SOC NEPHROL 2017;28 (5):1631-1641 [PubMed]
  • de Vries-Erich J, Spaai G, Vos J, de Crom K, Sijstermans T, Verheijck E, Linthorst G, Boerboom T, Ervaringen met Team-Based learning. 1389-4595 2017;- (02 - juni):13-15
  • Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C [Contributors: Bichet DG, Christensen EI, Correa-Rotter R, Elliott PM, Feriozzi S, Fogo AB, Germain DP, Hollak CEM, Hopkin RJ, Johnson J, Kantola I, Kopp JB, Kröner J, Linhart A, Martins AM, Matern D, Mehta AB, Mignani R, Najafian B, Narita I, Nicholls K, Obrador GT, Oliveira JP, Pisani A, Politei J, Ramaswami U, Ries M, Terryn W, Tøndel C, Torra R, Vujkovac B, Waldek S, Walter J]] , Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. KIDNEY INT 2017;91 (2):284-293 [PubMed]
  • Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tøndel C, Biegstraaten M, Hearing loss in children with Fabry disease. J INHERIT METAB DIS 2017;40 (5):725-731 [PubMed]

2016

  • Arends M, Linthorst GE, Hollak CE, Biegstraaten M, Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort. MOL GENET METAB 2016;117 (2):194-198 [PubMed]
  • Hollak CEM, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R, Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. ORPHANET J RARE DIS 2016;11 (1):7 [PubMed]
  • Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M, Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. NAT REV ENDOCRINOL 2016;12 (10):606-615 [PubMed]
  • Schuller Y, Linthorst GE, Hollak CEM, van Schaik IN, Biegstraaten M, Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review. BMC NEUROL 2016;16 (1):67 [PubMed]
  • Schuller Y, Linthorst GE, Hollak CEM, van Schaik IN, Biegstraaten M, Pain management strategies for neuropathic pain in Fabry disease--a systematic review. BMC NEUROL 2016;16 (1):25 [PubMed]
  • West M, Linthorst G. 49. Fabry Disease in: Hollak CEM, Lachmann RH, editors. Inherited Metabolic Disease in Adults; A Clinical Guide. Ney York: Oxford University Press; 2016., p. 317-323

2015

  • Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CEM, Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. ORPHANET J RARE DIS 2015;10 (1):36 [PubMed]
  • Bigger BW, Saif M, Linthorst GE, The role of antibodies in enzyme treatments and therapeutic strategies. BEST PRACT RES CL EN 2015;29 (2):183-194 [PubMed]
  • de Fost M, Oussaada SM, Endert E, Linthorst GE, Serlie MJ, Soeters MR, DeVries JH, Bisschop PH, Fliers E, The water deprivation test and a potential role for the arginine vasopressin precursor copeptin to differentiate diabetes insipidus from primary polydipsia. ENDOCR CONNECT 2015;4 (2):86-91 [PubMed]
  • Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR, Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J MED GENET 2015;52 (5):353-358 [PubMed]
  • Leijssen LGJ, Linthorst GE, Geukers VG, Ploem MCC, De 'interessante casus' en patiëntprivacy: Omgaan met patiëntgegevens in het medisch onderwijs. NED TIJDSCHR GENEESKD 2015;159:A9458 [PubMed]
  • Smid BE. Diagnostic and therapeutic dilemmas in Fabry and Gaucher disease. S.l.: s.n.; 2015. 360p. ISBN 978-94-6259-554-5 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Hollak CEM; copromotor(s): Linthorst GE)
  • Smid BE, Hollak CEM, Poorthuis BJHM, van den Bergh Weerman MA, Florquin S, Kok WEM, Lekanne Deprez RH, Timmermans J, Linthorst GE, Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. CLIN GENET 2015;88 (2):161-166 [PubMed]
  • Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CEM, Poorthuis BJHM, Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J MED GENET 2015;52 (4):262-268 [PubMed]
  • Suntjens EB, Smid BE, Biegstraaten M, Dreschler WA, Hollak CEM, Linthorst GE, Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy. J INHERIT METAB DIS 2015;38 (2):351-358 [PubMed]
  • van der Tol L. Fabry or not Fabry: From genetics to diagnosis. S.l.: s.n.; 2015. 231p. ISBN 978-94-6259-604-7 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Hollak CEM; copromotor(s): Linthorst GE, Biegstraaten M)
  • van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE, Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis. MOL GENET METAB 2015;114 (2):242-247 [PubMed]

2014

  • Berendse K, Engelen M, Linthorst GE, van Trotsenburg ASP, Poll-The BT, High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. ORPHANET J RARE DIS 2014;9:133 [PubMed]
  • Linthorst GE, Lauw FN, Hanekamp LA, Hoekstra JBL, Een klacht bij het tuchtcollege tegen een aios. NED TIJDSCHR GENEESKD 2014;158 (3):A6464 [PubMed]
  • Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MGW, Hollak CEM, 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. J INHERIT METAB DIS 2014;37 (3):341-352 [PubMed]
  • Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE, Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. INT J CARDIOL 2014;177 (2):400-408 [PubMed]
  • Van Banning EPM, Linthorst GE. samenwerken en verwijzen in: Grundmeijer HG, Rutten GE, Damoiseaux RA, editors. Het geneeskundig proces : Klinisch redeneren van klacht naar therapie (5e dr.). Maarssen: Elsevier Gezondheidszorg; 2014., p. 251-285
  • van der Meer JWM, van der Meer J, Linthorst GE, Postma CT, Blockmans D, editors, Anamnese en lichamelijk onderzoek. Amsterdam: Reed Business Amsterdam; 2014. 283p. ISBN 9789035237926
  • van der Meer JWM, van der Meer J, Linthorst GE, Postma CT, Blockmans DE. Hoordstuk 1 t/m 18 in: van der Meer JWM, van der Meer J, Linthorst GE, Postma CT, Blockmans D, editors. Anamnese en lichamelijk onderzoek. Amsterdam: Reed Business Amsterdam; 2014., p. 13-283
  • van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CEM, Biegstraaten M, 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 der Tol L, Smid BE, Poorthuis BJHM, Biegstraaten M, Deprez RHL, Linthorst GE, Hollak CEM, A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J MED GENET 2014;51 (1):1-9 [PubMed]
  • Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJA, de Visser M, Rhabdomyolysis: review of the literature. NEUROMUSCULAR DISORD 2014;24 (8):651-659 [PubMed]
  • [Contributors: Brouwers MCGJ, Linthorst GE, Karstens FPJ, Rennings A, Alkemade G, Meersseman W, Cassiman D, Thijs A, Wolffenbuttel BHR, Hollak CEM, Janssen MCH, Langendonk JG]] , Volwassenen met een erfelijke stofwisselingsziekte: een sterk groeiende populatie met unieke problematiek. NED TIJDSCHR GENEESKD 2014;158:A7745 [PubMed]

2013

  • Biegstraaten M, Linthorst GE, van Schaik IN, Hollak CEM, Fabry disease: a rare cause of neuropathic pain. CURR PAIN HEADACHE R 2013;17 (10):365 [PubMed]
  • Bouwman MG, de Ru MH, Linthorst GE, Hollak CEM, Wijburg FA, van Zwieten MCB, Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening. MOL GENET METAB 2013;109 (2):201-207 [PubMed]
  • Gold H, Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JDC, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JEM, Aerts JM, Poorthuis BJHM, Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry. CLIN CHEM 2013;59 (3):547-556 [PubMed]
  • Langereis EJ, van den Berg IET, Halley DJJ, Poorthuis BJHM, Vaz FM, Wokke JHJ, Linthorst GE, Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process. JIMD REPORTS 2013;9:117-120 [PubMed]
  • Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CEM, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A, 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]
  • Rombach SM. Fabry meets Markov. Evaluating biochemistry, disease course and costs in support of health care policy. s.l.: s.n.; 2013. 247p. ISBN 9789090273198 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Aerts JMFG, Hollak CEM; copromotor(s): Linthorst GE, Dijkgraaf MGW)
  • Rombach SM, Hollak CEM, Linthorst GE, Dijkgraaf MGW, Cost-effectiveness of enzyme replacement therapy for Fabry disease. ORPHANET J RARE DIS 2013;8 (1):29 [PubMed]
  • Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MGW, Hollak CEM, Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. ORPHANET J RARE DIS 2013;8 (1):47 [PubMed]
  • Smid BE, Hoogendijk SL, Wijburg FA, Hollak CEM, Linthorst GE, A revised home treatment algorithm for Fabry disease: influence of antibody formation. MOL GENET METAB 2013;108 (2):132-137 [PubMed]

2012

  • Aerts JMFG, Ferraz MJ, Boot RG, van Breemen MJ, Dekker N, Kramer G, Hollak CEM, Maas M, Linthorst GE, Smid B, Rombach SM, van Dussen L, Poorthuis B, Groener JEM. Biomarkers for Lysosomal Storage Disorders in: Surendran S, editors. Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease. Hauppage, New York: Nova Science Publishers; 2012., p. 169-203
  • Bouwman MG. Fabry disease: studies on diagnosis, screening and patients' perspectives. s.l.: s.n.; 2012. 207p. ISBN 9789461820287 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wijburg FA, Hollak CEM; copromotor(s): Linthorst GE, van Zwieten MCB)
  • Bouwman MG, Rombach SM, Schenk E, Sweeb A, Wijburg FA, Hollak CEM, Linthorst GE, Prevalence of symptoms in female Fabry disease patients: a case-control survey. J INHERIT METAB DIS 2012;35 (5):891-898 [PubMed]
  • Hollak CEM, de Sonnaville ESV, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JMFG, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJHM, Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients. MOL GENET METAB 2012;107 (3):526-533 [PubMed]
  • Linthorst GE, Ginsberg L, Prevalence of Fabry disease in TIA/stroke cohorts. What defines Fabry disease?. EUR J NEUROL 2012;19 (11):1383-1384 [PubMed]
  • Linthorst GE, Hollak CEM. Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders in: Metha A, Winchester B, editors. Lysosomal Storage Disorders: A Practical Guide. S.l.: Wiley-Blackwell; 2012., p. 181-185
  • Linthorst GE, Kallimanis-King BL, Douwes Dekker I, Hoekstra JBL, de Haes JCJM, What contributes to internists' willingness to disclose medical errors?. NETH J MED 2012;70 (5):242-248 [PubMed]
  • Rombach SM, Aerts JMFG, Poorthuis BJHM, Groener JEM, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CEM, Linthorst GE, 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]
  • Rombach SM, van den Bogaard B, de Groot E, Groener JEM, Poorthuis BJ, Linthorst GE, van den Born BJH, Hollak CEM, Aerts JMFG, Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine. HYPERTENSION 2012;60 (4):998-1005 [PubMed]
  • Scheltema MJV, Soeters MR, Linthorst GE, Zeldzame aandoeningen als onderzoeksmodel. NED TIJDSCHR GENEESKD 2012;156 (17):A4223 [PubMed]
  • Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C, Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. NEPHROL DIAL TRANSPL 2012;27 (3):1042-1049 [PubMed]
  • Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, Beitner-Johnson D, Cizmarik M, Cole JA, Kingma W, Warnock DG, Anti-alpha-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry. MOL GENET METAB 2012;105 (3):443-449 [PubMed]

2011

  • Aerts JMFG, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, Kramer G, Poorthuis BJ, Groener JEM, Cox-Brinkman J, Rombach SM, Hollak CEM, Linthorst GE, Witte MD, Gold H, van der Marel GA, Overkleeft HS, Boot RG, Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J INHERIT METAB DIS 2011;34 (3):605-619 [PubMed]
  • Biegstraaten M, van Schaik IN, Hollak CEM, Wieling W, Linthorst GE, Poikilothermia in a 38-year-old Fabry patient. CLIN AUTON RES 2011;21 (3):177-179 [PubMed]
  • Bouwman MG, Maurice-Stam H, Linthorst GE, Hollak CEM, Wijburg FA, Grootenhuis MA, Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life. MOL GENET METAB 2011;104 (3):308-313 [PubMed]
  • Bouwman MG, Rombach SM, Linthorst GE, Poorthuis BJHM, Deprez RHL, Aerts JMFG, Wijburg FA, Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation. CLIN GENET 2011;80 (5):500-502 [PubMed]
  • Hazenberg MD, Biemond BJ, Pals ST, Zumpolle CM, Schinkel CJ, Linthorst GE, Hoekstra JBL, Vos JMI, Clinical pathological conference: a non-Hodgkin's lymphoma patient with persistent anaemia after chemotherapy. NETH J MED 2011;69 (10):469-473 [PubMed]
  • Lauw MN, Hoekstra JBL, Linthorst GE, The success of a weekly medical quiz. Test-based medical education. NETH J MED 2011;69 (4):205-206 [PubMed]
  • Linthorst GE, Aerts JMFG, 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. J INHERIT METAB DIS 2011;34 (1):237-238 [PubMed]
  • Linthorst GE, Germain DP, Hollak CEM, Hughes D, Rolfs A, Wanner C, Mehta A, Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). MOL GENET METAB 2011;102 (1):99-102 [PubMed]
  • Smid BE, Aerts JMFG, Boot RG, Linthorst GE, Hollak CEM, Pharmacological small molecules for the treatment of lysosomal storage disorders (vol 19, pg 1367, 2010). EXPERT OPIN INV DRUG 2011;20 (2):309
  • Smid BE, Rombach SM, Aerts JMFG, Kuiper S, Mirzaian M, Overkleeft HS, Poorthuis BJHM, Hollak CEM, Groener JEM, Linthorst GE, Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. ORPHANET J RARE DIS 2011;6 (1):69 [PubMed]
  • van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, Breunig F, Wanner C, Aerts JM, Hollak CE, Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. BBA-MOL BASIS DIS 2011;1812 (1):70-76 [PubMed]

2010

  • Bouwman MG, Hollak CEM, van den Bergh Weerman MA, Wijburg FA, Linthorst GE, Analysis of Placental Tissue in Fabry Disease With and Without Enzyme Replacement Therapy. PLACENTA 2010;31 (4):344-346 [PubMed]
  • Bouwman MG, Rombach SM, Linthorst GE, Hollak CEM, Aerts JMFG, Wijburg FA, Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry. TIJDSCHR KINDERGENEESKD 2010;78 (2):69-73
  • Bouwman MG, Teunissen QGA, Wijburg FA, Linthorst GE, 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases. ARCH DIS CHILD 2010;95 (8):642-U96 [PubMed]
  • Linthorst GE, Avis HJ, Levi M, Uremic thrombocytopathy is not about urea. J AM SOC NEPHROL 2010;21 (5):753-755 [PubMed]
  • Linthorst GE, Bouwman MG, Wijburg FA, Aerts JMFG, Poorthuis BJHM, Hollak CEM, Screening for Fabry disease in high-risk populations: a systematic review. J MED GENET 2010;47 (4):217-222 [PubMed]
  • Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, van den Bergh Weerman MA, Groener JEM, Poorthuis BJ, Hollak CEM, Aerts JMFG, Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. BBA-MOL BASIS DIS 2010;1802 (9):741-748 [PubMed]
  • Rombach SM, Twickler TB, Aerts JMFG, Linthorst GE, Wijburg FA, Hollak CEM, Vasculopathy in patients with Fabry disease: Current controversies and research directions. MOL GENET METAB 2010;99 (2):99-108 [PubMed]
  • Smid BE, Aerts JMFG, Boot RG, Linthorst GE, Hollak CEM, Pharmacological small molecules for the treatment of lysosomal storage disorders. EXPERT OPIN INV DRUG 2010;19 (11):1367-1379 [PubMed]
  • Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG, Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. CLIN J AM SOC NEPHRO 2010;5 (12):2220-2228 [PubMed]
  • Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJA, Verschuuren JJGM, de Visser M, Recidiverende rabdomyolyse: zoek naar de onderliggende aandoening. NED TIJDSCHR GENEESKD 2010;154 (43):A2290 [PubMed]

2009

  • Bolmers MDM, Linthorst GE, Soeters MR, Nio YC, van Lieshout JJ, Green urine, but no infection. LANCET 2009;374 (9700):1566 [PubMed]
  • Hollak CEM, Linthorst GE, Immune response to enzyme replacement therapy in Fabry disease: Impact on clinical outcome?. MOL GENET METAB 2009;96 (1):1-3 [PubMed]
  • Linthorst GE, Torrenga RA, Hoekstra JBL, Het bespreken van medische fouten met de patiënt. NED TIJDSCHR GENEESKD 2009;153 (8):361-363 [PubMed]
  • Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ, Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. NEPHROL DIAL TRANSPL 2009;24 (7):2102-2111 [PubMed]

2008

  • Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ, Elevated globotriaosylsphingosine is a hallmark of Fabry disease. P NATL ACAD SCI USA 2008;105 (8):2812-2817 [PubMed]
  • Linthorst GE, de Metz J, Global warming could affect outpatient attendance. LANCET 2008;371 (9611):474 [PubMed]
  • Linthorst GE, Poorthuis BJHM, Hollak CEM, Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results. J AM COLL CARDIOL 2008;51 (21):2082; author reply 2082-2082; author reply 2083 [PubMed]

2007

  • Hollak CEM, Vedder AC, Linthorst GE, Aerts JMFG, Novel therapeutic targets for the treatment of Fabry disease. EXPERT OPIN THER TAR 2007;11 (6):821-833 [PubMed]
  • Linthorst GE, Daniels JMA, van Westerloo DJ, The majority of bold statements expressed during grand rounds lack scientific merit. MED EDUC 2007;41 (10):965-967 [PubMed]
  • Linthorst GE, Vedder AC, Hollak CEM, Bouma BJ, Dekker LRC, Screening for Fabry's disease in patients with cardiomyopathy - Comment. NETH HEART J 2007;15 (7-8):278
  • Vedder AC, Linthorst GE, Houge G, Groener JEM, Ormel EE, Bouma BJ, Aerts JMFG, Hirth A, Hollak CEM, 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]
  • Vedder AC, Linthorst GE, van Breemen MJ, Groener JEM, Bemelman FJ, Strijland A, Mannens MMAM, Aerts JMFG, Hollak CEM, The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J INHERIT METAB DIS 2007;30 (1):68-78 [PubMed]

2006

  • Linthorst GE. Fabry disease revisted. Clinical and laboratory studies at the advent of enzyme supplementation therapy. S.l.: s.n.; 2006. 297p. [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Aerts JMFG, van Oers MHJ; copromotor(s): Hollak CEM)
  • Linthorst GE, Ploem MC, Hulpverlening door artsen aan boord van een vliegtuig. NED TIJDSCHR GENEESKD 2006;150 (12):660-664 [PubMed]
  • Linthorst GE, Vedder AC, Bouma BJ, Dekker LRC, Hollak CEM, Unexplained left ventricular hypertrophy: consider a diagnosis of Fabry's disease. NETH HEART J 2006;14 (3):100-ev
  • Linthorst GE, Vedder AC, Ormel EE, Aerts JMFG, Hollak CEM, Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. NEPHROL DIAL TRANSPL 2006;21 (2):355-360 [PubMed]
  • Vedder AC, Cox-Brinkman J, Hollak CEM, Linthorst GE, Groener JEM, Helmond MTJ, Scheij S, Aerts JMFG, Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. MOL GENET METAB 2006;89 (3):239-244 [PubMed]

2005

  • Aerts JMFG, van Breemen MJ, Bussink AP, Brinkman J, Hollak CEM, Langeveld M, Linthorst GE, Vedder AC, de Fost M, The blood-brain barrier and treatment of lysosomal storage disease. INT CONGRESS SERIES 2005;1277:19-31
  • Linthorst GE, Hollak CEM, Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge: reply from authors. BRIT J DERMATOL 2005;152 (1):178-179
  • Linthorst GE, Vedder AC, Aerts JMFG, Hollak CEM, Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. CLIN CHIM ACTA 2005;353 (1-2):201-203 [PubMed]

2004

  • Linthorst GE, de Rie MA, Tjiam KH, Aerts JMFG, Dingemans KP, Hollak CEM, Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. BRIT J DERMATOL 2004;150 (3):575-577 [PubMed]
  • Linthorst GE, Hollak CEM, Donker-Koopman WE, Strijland A, Aerts JMFG, Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta. KIDNEY INT 2004;66 (4):1589-1595 [PubMed]
  • Verovnik F, Benko D, Vujkovac B, Linthorst GE, Remarkable variability in renal disease in a large Slovenian family with Fabry disease. EUR J HUM GENET 2004;12 (8):678-681 [PubMed]
  • Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP, Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. AM J HUM GENET 2004;75 (1):65-74 [PubMed]

2003

  • Bengtsson BA, Johansson JO, Hollak C, Linthorst G, FeldtRasmussen U, Enzyme replacement in Anderson-Fabry disease. LANCET 2003;361 (9354):352 [PubMed]
  • Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JMFG, Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA. AM J HUM GENET 2003;72 (1):23-31 [PubMed]
  • Linthorst GE, Folman CC, Aerts JMFG, Hollak CEM, Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency). BLOOD CELL MOL DIS 2003;31 (3):324-326 [PubMed]
  • Linthorst GE, Hollak CEM, Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease. HUM PATHOL 2003;34 (12):1358-1358; author reply 1359 [PubMed]
  • Linthorst GE, Hollak CEM, Europese verordening inzake weesgeneesmiddelen: kansen en bedreigingen. NED TIJDSCHR GENEESKD 2003;147 (4):143-145 [PubMed]
  • Linthorst GE, Hollak CEM, Korevaar JC, van Manen JG, Aerts JMFG, Boeschoten EW, alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. NEPHROL DIAL TRANSPL 2003;18 (8):1581-1584 [PubMed]

2002

  • Linthorst GE, Folman CC, van Olden RW, von dem Borne AEGK, Plasma thrombopoietin levels in patients with chronic renal failure. HEMATOL J 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 REV 2002;16 (1):57-59 [PubMed]

2001

  • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. NEW ENGL J MED 2001;345 (1):9-16 [PubMed]
  • Linthorst GE, Hollak CEM, Heymans HSA, Aerts JMFG, De ziekte van Fabry: etiologie, kliniek en behandeling.. NED TIJDSCHR DERMATOL VENEREOL 2001;11:7-9

2000

  • Folman CC, Linthorst GE, van Mourik J, van Willigen G, de Jonge E, Levi M, de Haas M, von dem Borne AE, Platelets release thrombopoietin (Tpo) upon activation: another regulatory loop in thrombocytopoiesis?. THROMB HAEMOSTASIS 2000;83 (6):923-930 [PubMed]
  • Linthorst GE, Hollak CE, Bosman DK, Heymans HS, Aerts JM, De ziekte van Fabry: op weg naar een behandeling. NED TIJDSCHR GENEESKD 2000;144 (50):2391-2395 [PubMed]

1999

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

1998

  • von dem Borne AE, Folman C, Linthorst GE, 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. BAILLIERES CLIN HAEMATOL 1998;11 (2):409-426 [PubMed]
  • von dem Borne AE, Folman C, Linthorst GE, 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. BAILLIERES CLIN HAEMATOL 1998;11 (2):427-445 [PubMed]