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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Metabole leverziekten

Verkade H.J., Bodewes F.A.J.A., Houwen R.H.J., de Vries R.A., van Hoek B, Visser G. 2009, p. 133-148 16 p.

Does treatment with NTBC affect cognitive functioning in tyrosinemia type1?

van Hasselt P.M., Bendadi F., Visser G., Sinnema G., van Spronsen F.J., de Koning T.J. 2009,

Comment on: To test or not to test children with developmental disorders. Rapin I.

Engbers H.M., Berger R., van Hasselt P.M., de Koning T.J., de Sain - van der Velden M.G.M., Kroes H.Y., Visser G. 2009, In: Annals of Neurology. 65 , p. 483-483 1 p.

Monocarboylate transporter type 8 deficiency mimicking severe mitochondrial encephalopathy.

van Hasselt P.M., van Mil S.W.C., Willemsen E.C.L., Spliet W.G.M., Visser G., Rodenburg R.J.T., Klomp L.W.J., de Koning T.J. 2009,

Uitgebreide neonatale hielprikscreening op stofwisselingsziekten in Nederland

Visser G., van Spronsen F.J., de Sain - van der Velden M.G.M., Blom H.J., Wijburg F.A. 2009, In: Nederlands Tijdschrift voor Geneeskunde. 153 , p. 848-853 6 p.

Expansion of newborn screening for metabolic disorders in the Netherlands: results of the first 2 years.

Visser G., de Sain - van der Velden M.G.M., Blom H.J., Bosch A.M., Boelen C.C.A., Mulder M.F., Rubio-Gozalbo M.E., Williams M., de Vries M.M.C., van Spronsen F.J. 2009,

Lysosomale stapelingsziekten

Wijburg F.A., Visser G. 2009, p. 109-121 12 p.

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX

de Sain-van der Velden M. G. M., Verrips A., Prinsen B. H. C. M. T., de Barse M., Berger R., Visser G. Dec 2008, In: Journal of Inherited Metabolic Disease. 31 , p. S387-S393 7 p.

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array-based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., de Jonge M.V., Staal W.G., Vorstman J.A.S., Ippel P.F., van den Boogaard M.J.H., Terhal P.A., Beemer F.A., van der Smagt J.J., Brilstra E.H., Visser G., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008, p. 135 1 p.

Novel inherited and de novo loci for autism in patients with additional mental retardation and significant co-morbidity

Poot M., Ozgen M.H., van Daalen E., Verbeek N.E., de Jonge M.V., Brilstra E.H., van den Boogaard M.J.H., Terhal P.A., Ippel P.F., Beemer F.A., Kroes H.Y., van der Smagt J.J., van ´t Slot R., Nelen M.R., van Binsbergen E., Visser G., Rump P., Dijkhuizen T., Vorstman J.A.S., Jalali G.R., Emanuel B.S., van der Zwaag B., Burbach J.P.H., Staal W.G., van Engeland H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008,

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