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dr. G. (Gepke) Visser

dr. G. (Gepke) Visser

Assistant Professor - medical
dr. G. (Gepke) Visser
  • Metabolic diseases patient care

Research Programs

Child Health

Side Activities

2017 – 2018    member of taskforce Richtlijn voor de etiologische diagnostiek bij kinderen met een ontwikkelingsachterstand/verstandelijke beperking of NVK

2012 – now     member of Programma Commissie Subspecialistische Opleidingen (PCSO) of NVK

2011 – now     member of NEOnatale Registratie Afwijkende Hielprikscreening (NEORAH) of NVK

2011 – now     member of Programma Commissie Neonatale Hielprikscreening (PHNS) of NVK

2011 – now     member of Werkgroep Informatievoorziening en Kwaliteit Neonatale Hielprikscreening (WIKNHS) of NVK

2011 – now     member of Werkgroep Onderzoek Neonatale Hielprikscreening (WOHNS) of NVK

2007 – now     member of Diagnose Registratiecommissie Neonatale Screening en metabole ziekten (ANS-MZ) of NVK

Research Output (179)

Clinical characteristics of primary carnitine deficiency:A structured review using a case-by-case approach

Crefcoeur Loek L., Visser Gepke, Ferdinandusse Sacha, Wijburg Frits A., Langeveld Mirjam, Sjouke Barbara May 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 386-405 20 p.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Schwantje Marit, Ebberink Merel S., Doolaard Mirjam, Ruiter Jos P.N., Fuchs Sabine A., Darin Niklas, Hedberg-Oldfors Carola, Régal Luc, Donker Kaat Laura, Huidekoper Hidde H., Olpin Simon, Cole Duncan, Moat Stuart J., Visser Gepke, Ferdinandusse Sacha 11 Apr 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 819-831 13 p.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

Schwantje Marit, Fuchs Sabine A., de Boer Lonneke, Bosch Annet M., Cuppen Inge, Dekkers Eugenie, Derks Terry G.J., Ferdinandusse Sacha, Ijlst Lodewijk, Houtkooper Riekelt H., Maase Rose, van der Pol W. Ludo, de Vries Maaike C., Verschoof-Puite Rendelien K., Wanders Ronald J.A., Williams Monique, Wijburg Frits, Visser Gepke 5 Apr 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 804-818 15 p.

Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse

Diekman Eugène F., van Weeghel Michel, Suárez-Fariñas Mayte, Argmann Carmen, Ranea-Robles Pablo, Wanders Ronald J.A., Visser Gepke, van der Made Ingeborg, Creemers Esther E., Houten Sander M. Jun 2021, In: Molecular Genetics and Metabolism Reports. 27 , p. 1-8

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation

Verkerk Arie O., Knottnerus Suzan J.G., Portero Vincent, Bleeker Jeannette C., Ferdinandusse Sacha, Guan Kaomei, IJlst Lodewijk, Visser Gepke, Wanders Ronald J.A., Wijburg Frits A., Bezzina Connie R., Mengarelli Isabella, Houtkooper Riekelt H. 12 Jan 2021, In: Frontiers in Pharmacology. 11

An international classification of inherited metabolic disorders (ICIMD)

Ferreira Carlos R, Rahman Shamima, Keller Markus, Zschocke Johannes, , Visser Gepke Jan 2021, In: Journal of Inherited Metabolic Disease. 44 , p. 164-177 14 p.

Neonatal carnitine concentrations in relation to gestational age and weight

Crefcoeur Loek L., de Sain-van der Velden Monique G.M., Ferdinandusse Sacha, Langeveld Mirjam, Maase Rose, Vaz Frédéric M., Visser Gepke, Wanders Ronald J.A., Wijburg Frits A., Verschoof-Puite Rendelien K., Schielen Peter C.J.I. 1 Nov 2020, In: JIMD Reports. 56 , p. 95-104 10 p.

Development and validation of a gas chromatography–mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma

van Harskamp Dewi, Knottnerus Suzan J.G., Visser Gepke, van Goudoever Johannes B., Schierbeek Henk 1 Sep 2020, In: Analytical and Bioanalytical Chemistry. 412 , p. 5789-5797 9 p.

Mitochondrial Fatty Acid Oxidation Disorders:Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment

Wanders Ronald J A, Visser Gepke, Ferdinandusse Sacha, Vaz Frédéric M, Houtkooper Riekelt H Sep 2020, In: Journal of lipid and atherosclerosis. 9 , p. 313-333 21 p.

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature:Strategies for optimization

Stroek Kevin, Boelen Anita, Bouva Marelle J., De Sain-van der Velden Monique, Schielen Peter C.J.I., Maase Rose, Engel Henk, Jakobs Bernadette, Kluijtmans Leo A.J., Mulder Margot F., Rubio-Gozalbo M. E., van Spronsen Francjan J., Visser Gepke, de Vries Maaike C., Williams Monique, Heijboer Annemieke C., Kemper Evelien A., Bosch Annet M. Jul 2020, In: JIMD Reports. 54 , p. 68-78 11 p.

All research output

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