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dr. G. (Gepke) Visser

dr. G. (Gepke) Visser

Assistant Professor - medical

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Research Output (176)

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 Mar 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.

Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer

Knottnerus Suzan J.G., van Harskamp Dewi, Schierbeek Henk, Bleeker Jeannette C., Crefcoeur Loek L., Ferdinandusse Sacha, van Goudoever Johannes B., Houtkooper Riekelt H., IJlst Lodewijk, Langeveld Mirjam, Wanders Ronald J.A., Vaz Frédéric M., Wijburg Frits A., Visser Gepke 2020, In: Clinical Nutrition. 40 , p. 1396-1404 9 p.

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency:A retrospective and laboratory cohort study

van Rijt Willemijn J., Ferdinandusse Sacha, Giannopoulos Panagiotis, Ruiter Jos P.N., de Boer Lonneke, Bosch Annet M., Huidekoper Hidde H., Rubio-Gozalbo M. Estela, Visser Gepke, Williams Monique, Wanders Ronald J.A., Derks Terry G.J. 1 Sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 878-889 12 p.

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager Emmalie A., Kuijpers Myrthe M., Bosch Annet M., Mulder Margot F., Gozalbo Estela R., Visser Gepke, de Vries Maaike, Williams Monique, Waterham Hans R., van Spronsen Francjan J., Schielen Peter C.J.I., Derks Terry G.J. Sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 890-897 8 p.

Genetic defect of the sodium-dependent multivitamin transporter:A treatable disease, mimicking biotinidase deficiency

Schwantje Marit, de Sain-van der Velden Monique, Jans Judith, van Gassen Koen, Dorrepaal Charlotte, Koop Klaas, Visser Gepke Jul 2019, In: JIMD Reports. 48 , p. 11-14 4 p.

Research activity and capability in the European reference network MetabERN

Heard Jean Michel, Bellettato Cinzia, Van Lingen Corine, Scarpa Maurizio, Debray François Guillaume, Nassogne Marie Cécile, Van Coster Rudy, De Meirleir Linda, Eyskens François, Morava Eva, Baric Ivo, Kozich Viktor, Lund Allan Meldgaard, Germain Dominique, Belmatoug Nadia, Guffon Nathalie, Labrune Philippe, Gouya Laurent, De Lonlay Pascale, Schiff Manuel, Dobbelaere Dries, Chabrol Brigitte, Das Anihb Martin, Spiekerkoetter Ute, Rutsch Frank, Ploeckinger Ursula, Mohnike Klaus, Hahn Andreas, Kölker Stefan, Ullrich Kurt, Balogh István, Bembi Bruno, Donati Maria Alice, Gasperini Serena, Parenti Giancarlo, Salviati Alessandro, Vici Carlo Dionisi, Di Rocco Maja, Cefalo Graziella, Burlina Alberto, Ceccarini Giovanni, Federico Antonio, Van Der Ploeg Ans, Rubio-Gozalbo Maria Estela, Van Spronsen Francian, Visser Gepke, Bosch Annet, Tangeraas Trine, Sanderberg Sverre, Kieć-Wilk Beata 29 May 2019, In: Orphanet Journal of Rare Diseases. 14

The natural history of classic galactosemia:Lessons from the GalNet registry

Rubio-Gozalbo M. E., Haskovic M., Bosch A. M., Burnyte B., Coelho A. I., Cassiman D., Couce M. L., Dawson C., Demirbas D., Derks T., Eyskens F., Forga M. T., Grunewald S., Häberle J., Hochuli M., Hubert A., Huidekoper H. H., Janeiro P., Kotzka J., Knerr I., Labrune P., Landau Y. E., Langendonk J. G., Möslinger D., Müller-Wieland D., Murphy E., Õunap K., Ramadza D., Rivera I. A., Scholl-Buergi S., Stepien K. M., Thijs A., Tran C., Vara R., Visser G., Vos R., De Vries M., Waisbren S. E., Welsink-Karssies M. M., Wortmann S. B., Gautschi M., Treacy E. P., Berry G. T. 27 Apr 2019, In: Orphanet Journal of Rare Diseases. 14

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 Apr 2019, In: Nature Communications. 10

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