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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 rare presentation of Childhood Pompe Disease: Cardiac Involvement Provoked by Epstein-Barr Virus Infection

Talsma M., Kroos M.A., Visser G., Kimpen J.L.L., Niezen-Koning K.E. 2002, In: Pediatrics. 109 , p. 65 2 p.

Intestinal function in glycogen storage disease type I

Visser G., Rake J.P., Kokke F.T.M., Nikkels P.G.J., Sauer P.J.J., Smit G.P.A. 2002, In: Journal of Inherited Metabolic Disease. 25 , p. 261-268 8 p.

Glycogen storage disease type 1b Clinical and biochemical aspecs and implications for treatment

Visser G. 17 Oct 2001, 115 p.

Neonatale hyperammoniëmie niet altijd een metabole ziekte

Bodewes F.A.J.A., Bergman K.A., Smit G.P.A., Visser G. 2001, In: Tijdschrift voor Kindergeneeskunde. 69 , p. 136-140 5 p.

Neonatale hyperammoniëmie

Bodewes F.A.J.A., Bergman K.A., Smit G.P.A., Visser G. 2001,

Glycogen storage disease type Ia:Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

Rake Jan Peter, ten Berge Annelies M., Visser Gepke, Verlind Edwin, Niezen-Koning Klary E., Buys Charles H.C.M., Smit G. Peter A., Scheffer Hans 1 Jan 2000, In: European Journal of Pediatrics. 159 , p. 322-330 9 p.

End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency:No contra-indication for liver transplantation

Rake Jan Peter, Van Spronsen Francjan J., Visser Gepke, Ruitenbeek Wim, Schweizer Joachim J., Bijleveld Charles M.A., Peeters Paul M.J.G., De Jong Koert P., Slooff Maarten J.H., Reijngoud Dirk Jan, Niezen-Koning Klary E., Smit G. Peter A. 1 Jan 2000, In: European Journal of Pediatrics. 159 , p. 523-526 4 p.

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay in their asymptomatic father.

Visser G., Suormala T., Bink-Boelkens M.T.E., Reijngoud D.J., Smit G.P.A., Baumgartner E.R. 2000, In: European Journal of Pediatrics. 12 , p. 901-904 4 p.

GCSF bij patiënten met glycogeenstapelingsziekte type 1b. Resultaten van de Europese studie naar GSD.

Visser G., Rake J.P., Smit G.P.A. 2000, In: Tijdschrift voor Kindergeneeskunde. 68 , p. 101 1 p.

Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake J.P., ten Berge AM, Visser G., Verlindt E, Niezen-Koning K.E., Buys C.H.C.M., Smit G.P.A., Scheffer H 2000, In: European Journal of Pediatrics. 159 , p. 322-330 9 p.

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