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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry.

van der Ham M., Albersen M., de Koning T.J., Visser G., Middendorp A., Bosma M., Verhoeven - Duif N.M., de Sain - van der Velden M.G.M. 2012, In: Analytica Chimica Acta. 27 , p. 108-114 7 p.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients.

Hollak C.E., de Sonnaville E.S., Cassiman D., Linthorst G.E.., Groener J.E.M., Morava E., Wevers R.A., Mannens M., Aerts J.M., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D.J., Poorthuis B.J.H.M. 2012, In: Molecular Genetics and Metabolism. 107 , p. 526-33 8 p.

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink M.S., Koster J., Visser G., van Spronsen F.J., Stolte-Dijkstra I., Smit G.P., Fock J.M., Kemp S., Wanders R.J., Waterham H.R. 2012, In: American Journal of Medical Genetics. Part A. 49 , p. 307-313 7 p.

Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.

Wisse Robert P L, Wittebol-Post Dienke, Visser Gepke, van der Lelij Allegonda 2012, In: BMJ Case Reports [E]. 2012 , p. 006301 1 p.

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: Data from a cohort study.

Touw C.M., Smit G.P., de Vries M., de Klerk J., Bosch A.M., Visser G., Mulder M.F., Rubio-Gozalbo M.E., Elvers B., Niezen-Koning K.E., Wanders R.J., Waterham H.R., Reijngoud D.J., Derks T.G. 2012, In: Orphanet Journal of Rare Diseases. 7 , p. 30 1 p.

Dieet bij Metabole Ziekten

Carbasius Weber E.C., van Veen M.R., Visser G. 2011, 420 p.

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Bosch A.M., Abeling N.G.G.M., IJlst L., Knoester H., van der Pol W.L., Stroomer A.E.M., Wanders R.J., Visser G., Wijburg F.A., Duran M., Waterham H.R. 2011, In: Journal of Inherited Metabolic Disease. 34 , p. 159-164 6 p.

Metabolic profiles in children during fasting.

van Veen M.R., van Hasselt P.M., de Sain - van der Velden M.G.M., Verhoeven - Duif N.M., Hofstede F.C., de Koning T.J., Visser G. 2011, In: Pediatrics. 127 , p. e1021-e1027 7 p.

Uitbreiding neonatale screeningsprogramma met propionacidemie en methylmalonacidemie is zinvol.

de Sain - van der Velden M.G.M., Bosch A.M., Prinsen H.C.M.T., van Hasselt P.M., Hofstede F.C., Wijburg F.A., Visser G. 2011, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 36 , p. 167-169 3 p.

Clinical exercise testing in children with neurometabolic myopathies

Takken T., Ernsting C., Hulzebos H.J., Groen W.G., van Hasselt P.M., Prinsen H.C.M.T., Helders P.J.M., Visser G. 2011, p. 187-191 4 p.

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