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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

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 Mar 2018, 1 , p. 19-30 12 p.

De Hielprik - 3. Metabool dieet

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

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker Jeannette C., Kok Irene L., Ferdinandusse Sacha, de Vries Maaike, Derks Terry G.J., Mulder Margot F., Williams Monique, Rubio Gozalbo Estela, Bosch Annet M., van Den Hurk Dorine T., de Sain-van der Velden Monique G.M., Waterham Hans R., Wijburg Frits A., Visser Gepke 19 Mar 2018, In: Journal of Inherited Metabolic Disease. 42 , p. 159-168 10 p.

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

Knottnerus Suzan J.G., Bleeker Jeannette C., Wüst Rob C.I., Ferdinandusse Sacha, IJlst Lodewijk, Wijburg Frits A., Wanders Ronald J.A., Visser Gepke, Houtkooper Riekelt H. Mar 2018, In: Reviews in Endocrine and Metabolic Disorders. 19 , p. 93-106 14 p.

Beneficial Effect of BHTreatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

de Sain-van der Velden Monique G M, Kuper Willemijn F E, Kuijper Marie-Anne, van Kats Lenneke A T, Prinsen Hubertus C M T, Balemans Astrid C J, Visser Gepke, van Gassen Koen L I, van Hasselt Peter M 30 Jan 2018, 42 , p. 99-103 5 p.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Grünert Sarah Catharina, Schmitt Robert Niklas, Schlatter Sonja Marina, Gemperle-Britschgi Corinne, Balci Mehmet Cihan, Berg Volker, Çoker Mahmut, Das Anibh M, Demirkol Mübeccel, Derks Terry G J, Gökçay Gülden, Uçar Sema Kalkan, Konstantopoulou Vassiliki, Christoph Korenke G., Lotz-Havla Amelie Sophia, Schlune Andrea, Staufner Christian, Tran Christel, Visser Gepke, Schwab Karl Otfried, Fukao Toshiyuki, Sass Jörn Oliver Sep 2017, In: Molecular Genetics and Metabolism. 122 , p. 67-75 9 p.

Severe fat accumulation in multiple organs in pediatric autopsies:An uncommon but significant finding

Bleeker Jeannette C., Visser Gepke, Wijburg Frits A., Ferdinandusse Sacha, Rwaterham Hans, Nikkels Peter G.J. 21 Jul 2017, In: Pediatric and Developmental Pathology. 20 , p. 269-276 8 p.

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