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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Uitbreiding neonatale screening: extra belasting metabole centra verdient meer aandacht

Visser G., Bakker H.D. 2006, In: Journal Title. p. 336-337 2 p.

Long-chain triglyceride tolerance in VLCAD deficiency

Jonckheere A.I., Carbasius Weber E.C., de Sain - van der Velden M.G.M., Visser G. 2006, p. 112 1 p.

Cerebral, cerebellar and colobomatous anomalies in three related males: sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

Kroes H.Y., Nievelstein R.A.J., Barth P.G., Nikkels P.G.J., Bergmann C., Gooskens R.H.J.M., Visser G., Ploos van Amstel J.K., Beemer F.A. 7 May 2005, p. 139-140 2 p.

Cerebral, cerebellar and colobomatous anomalies in three related males: sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

Kroes H.Y., Nievelstein R.J., Barth P.G., Nikkels P.G.J., Bergmann C., Gooskens R.H.J.M., Visser G., Ploos van Amstel J.K., Beemer F.A. 2005, In: American Journal of Medical Genetics. Part A. 135A , p. 297-301 5 p.

Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency

Takken T., Custers J.W.H., Visser G., Dorland L., Helders P.J.M., de Koning T.J. 2005, In: Nutrition & Metabolism [E]. 2 , p. 12 1 p.

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

Engbers H.M., Dorland L., de Sain - van der Velden M.G.M., Eskes P.F., Visser G. 2005, In: Journal of Inherited Metabolic Disease. 28 , p. 1151-1152 2 p.

Disorder of carbohydrate and glycogen metabolism.

Rake J.P., Visser G. 2005, p. 161-180 20 p.

Glycogen storage disease.

Visser G., de Valk H.W. 2005, p. 141-146 6 p.

A newly recognized cerebellar coloboma syndrome with XR inheritance

Kroes H.Y., Nievelstein R.J., Barth P.G., Nikkels P.G.J., Bergmann C., Gooskens R.H.J.M., Visser G., Ploos van Amstel J.K., Beemer F.A. 9 Nov 2004,

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R, Romeo E., Ristic Z., Ohura T., Stuart C., Arcos-Burgos M., Dave M.H., Wagner C.A., Camargo S.R., Inoue S., Matsuura N., Helip-Wooley A., Bockenhauer D., Warth R., Bernardini I., Visser G., Eggerman T., Lee P., Chairoungdua A., Jutabha P., Babu E., Nilwarangkoon S., Anzai N., Kanai Y., Verrey F., Gahl W.A., Koizumi A. 2004, In: Nature Genetics. 36 , p. 999-1002 4 p.

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