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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 (172)

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.

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker Jeannette C., Visser Gepke, Clarke Kieran, Ferdinandusse Sacha, de Haan Ferdinand H., Houtkooper Riekelt H., IJlst Lodewijk, Kok Irene L., Langeveld Mirjam, van der Pol W. Ludo, de Sain-van der Velden Monique G.M., Sibeijn-Kuiper Anita, Takken Tim, Wanders Ronald J.A., van Weeghel Michel, Wijburg Frits A., van der Woude Luc H., Wüst Rob C.I., Cox Pete J., Jeneson Jeroen A.L. jul 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 787-799 13 p.

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Knottnerus Suzan J.G., Pras-Raves Mia L., van der Ham Maria, Ferdinandusse Sacha, Houtkooper Riekelt H., Schielen Peter C.J.I., Visser Gepke, Wijburg Frits A., de Sain-van der Velden Monique G.M. 1 jun 2020, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1866

Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates

Knottnerus Suzan J.G., Mengarelli Isabella, Wüst Rob C.I., Baartscheer Antonius, Bleeker Jeannette C., Coronel Ruben, Ferdinandusse Sacha, Guan Kaomei, Ijlst Lodewijk, Li Wener, Luo Xiaojing, Portero Vincent M., Ulbricht Ying, Visser Gepke, Wanders Ronald J.A., Wijburg Frits A., Verkerk Arie O., Houtkooper Riekelt H., Bezzina Connie R. 8 apr 2020, In: International journal of molecular sciences. 21 , p. 1-15

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Mosca Rosario, van de Vlekkert Diantha, Campos Yvan, Fremuth Leigh E, Cadaoas Jaclyn, Koppaka Vish, Kakkis Emil, Tifft Cynthia, Toro Camilo, Allievi Simona, Gellera Cinzia, Canafoglia Laura, Visser Gepke, Annunziata Ida, d'Azzo Alessandra 4 mrt 2020, In: Journal of Clinical medicine. 9 , p. 1-15

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Heard Jean Michel, Vrinten Charlotte, Schlander Michael, Bellettato Cinzia Maria, Van Lingen Corine, Scarpa Maurizio, Matthijs Gert, Nassogne Marie Cécile, Debray François Guillaume, Roland Dominique, Chamova Teodora, Kozich Viktor, Pavel Jesina, Zenker Martin, Lampe Christina, Das Anihb Martin, Hennermann Julia, Kölker Stefan, Weinhold Natalie, Mohnike Klaus, Gruenert Sarah, Lund Allan Meldgaard, Morales-Conejo Montserrat, Del Toro-Riera Mireia, Aldámiz-Echevarría Luis, Garcia-Silva Maria Teresa, Schiff Manuel, Gouya Laurent, De Lonlay Pascale, Belmatoug Nadia, Germain Dominique P., Cano Aline, Dobbelaere Dries, Jones Simon, Dawson Charlotte, Deegan Patrick, Santra Saikat, Vijay Suresh, Petkovic Ramadza Danijela, Barić Ivo, Žigman Tamara, Pflieger György, Szakszon Katalin, Kaposta Rita, Gasperini Serena, Burlina Alberto, Parenti Giancarlo, Strisciuglio Pietro, Ceccarini Giovanni, Visser Gepke, 6 jan 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-10

Subclinical effects of long-chain fatty acid beta-oxidation deficiency on the adult heart: A case-control magnetic resonance study:A case-control magnetic resonance study

Knottnerus Suzan J.G., Bleeker Jeannette C., Ferdinandusse Sacha, Houtkooper Riekelt H., Langeveld Mirjam, Nederveen Aart J., Strijkers Gustav J., Visser Gepke, Wanders Ronald J.A., Wijburg Frits A., Boekholdt S. Matthijs, Bakermans Adrianus J. 1 jan 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 969-980 12 p.

All research output

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