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dr. G. (Gepke) Visser

dr. G. (Gepke) Visser

Assistant Professor - medical

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Research Output (172)

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 mei 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

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker Jeannette C., Kok Irene L., Ferdinandusse Sacha, van der Pol W. Ludo, Cuppen Inge, Bosch Annet M., Langeveld Mirjam, Derks Terry G.J., Williams Monique, de Vries Maaike, Mulder Margot F., Gozalbo Estela R., de Sain-van der Velden Monique G.M., Rennings Alexander J., Schielen Peter J.C.I., Dekkers Eugenie, Houtkooper Riekelt H., Waterham Hans R., Pras-Raves Mia L., Wanders Ronald J.A., van Hasselt Peter M., Schoenmakers Marja, Wijburg Frits A., Visser Gepke 13 feb 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 414-423 10 p.

Glycogen storage disease type IV:A rare cause for neuromuscular disorders or often missed?

Schene Imre F., Korenke Christoph G., Huidekoper Hidde H., van der Pol Ludo, Dooijes Dennis, Breur Johannes M.P.J., Biskup Saskia, Fuchs Sabine A., Visser Gepke 20 dec 2018, p. 99-104 6 p.

De Hielprik - 2. Erfelijke metabole ziekten

Wijburg Frits A., Visser G 31 mrt 2018, 1 , p. 19-30 12 p.

De Hielprik - 3. Metabool dieet

Visser G 31 mrt 2018, 1 , p. 31-34 4 p.

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