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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

A new approach for fast metabolic diagnostics in CMAMMA

de Sain-van der Velden Monique G.M., van der Ham Maria, Jans Judith J., Visser Gepke, Prinsen Hubertus C.M.T., Verhoeven-Duif Nanda M., van Gassen Koen L.I., van Hasselt Peter M. 1 Jan 2016, 30 , p. 15-22 8 p.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts:effects of bezafibrate

Djouadi Fatima, Habarou Florence, Le Bachelier Carole, Ferdinandusse Sacha, Schlemmer Dimitri, Benoist Jean François, Boutron Audrey, Andresen Brage S., Visser Gepke, de Lonlay Pascale, Olpin Simon, Fukao Toshiyuki, Yamaguchi Seiji, Strauss Arnold W., Wanders Ronald J A, Bastin Jean Jan 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 47-58 12 p.

The Newborn Screening Paradox:Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Diekman Eugene, de Sain-van der Velden Monique, Waterham Hans, Kluijtmans Leo, Schielen Peter, van Veen Evert Ben, Ferdinandusse Sacha, Wijburg Frits, Visser Gepke 2016, 27 , p. 101-106 6 p.

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Diekman E F, Visser G, Schmitz J P J, Nievelstein R A J, de Sain-van der Velden M, Wardrop M, Van der Pol W L, Houten S M, van Riel N A W, Takken T, Jeneson J A L 2016, In: PLoS ONE [E]. 11 19 p.

Stofwisselingsziekten binnen de psychiatrie

De Sain-Van der Velden M G M, Jans J J, Figee M, Engelen M, Prinsen H C M T, Verhoeven-Duif N M, van Kuilenburg A B P, Visser G, Vinkers C H 2016, In: Tijdschrift voor Psychiatrie. 58 , p. 402-406 5 p.

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Diekman Eugene F., Ferdinandusse Sacha, van der Pol Ludo, Waterham Hans R., Ruiter Jos P. N., Ijlst Lodewijk, Wanders Ronald J., Houten Sander M., Wijburg Frits A., Blank A. Christiaan, Asselbergs Folkert W., Houtkooper Riekelt H., Visser Gepke Dec 2015, In: Genetics in Medicine. 17 , p. 989-994 6 p.

Pitfalls in Diagnosing Neuraminidase Deficiency:Psychosomatics and Normal Sialic Acid Excretion

Schene Imre F., Kalinina Ayuso Viera, de Sain-van der Velden Monique, van Gassen Koen L.I., Cuppen Inge, van Hasselt Peter M., Visser Gepke 5 Jul 2015, p. 9-13 5 p.

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

Franik Sebastian, Huidekoper Hidde H., Visser Gepke, de Vries Maaike, de Boer Lonneke, Hermans-Peters Marion, Rodenburg Richard, Verhaak Chris, Vlieger Arine M., Smeitink Jan A M, Janssen Mirian C H, Wortmann Saskia B. May 2015, In: Journal of Inherited Metabolic Disease. 38 , p. 477-482 6 p.

Vitamin B6 in plasma and cerebrospinal fluid of children

Albersen Monique, Bosma M., Jans Judith J M, Hofstede FC, van Hasselt PM, De Sain-van Der Velden Monique G M, Visser Gepke, Verhoeven-Duif NM 11 Mar 2015, In: PLoS ONE [E]. 10

Therapeutic options for patients with neuraminidase deficiency

Schene Imre F., Velden Monique G. M. de Sain-van der, Ayuso Viera Kalinina, van Gassen Koen L. I., Cuppen Inge, Visser Gepke Feb 2015, In: Molecular Genetics and Metabolism. 114 , p. S102-S103 2 p.

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