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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Dietary management of glycogen storage disease type 1a patients in pregnancy.

van Rijn H.M., Huitema S, Rake J.P., Visser G., Heringa M.P., van Spronsen F.J., Smit G.P.A. 2000, In: Journal of Inherited Metabolic Disease. 23 , p. 162 1 p.

Neutropenia, neutrophil dysfunction and inflammatory bowel disease in Glycogen Storage Disease type 1b.

Visser G., Rake J.P., Fernandes J, Labrune P, Leonard J.V., Moses S, Ullrich K, Smit G.P.A. 2000, In: Journal of Pediatrics. 137 , p. 187-191 5 p.

Glycogen storage disease type 1B neutrophils show opposite findings compared to neutrophils in an acute blocking model with chlorogenic analogue S4048.

Visser G., Huitema M., Rake J.P., Meijer AF, Limburg P.C., Burger HJ, Herling AW, Smit G.P.A., Niezen-Koning K.E. 2000, In: Journal of Inherited Metabolic Disease. 23 , p. 167 1 p.

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

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: Human Mutation. 15 , p. 381 1 p.

End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-inducation for liver transplantation.

Rake J.P., van Spronsen F.J., Visser G., Ruitenbeek W., Schweizer J.J., Bijleveld C.M.A., de Jong K.P., Slooff M.J.H., Reijngoud D.J., Niezen-Koning K.E., Smit G.P.A. 2000, In: European Journal of Pediatrics. 159 , p. 523-526 4 p.

Een kind met donker verkleurende urine

Jeucken Y, Visser G., Jaarsma A.S., van Spronsen F.J. 1999, In: Nederlands Tijdschrift voor Geneeskunde. 143 , p. 1641-1643 3 p.

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.

Rake J.P., ten Berge AM, Verlind E., Visser G., Niezen-Koning K.E., Buys C.H.C.M., Smit G.P.A., Scheffer H. 1999, In: Human Mutation. 13 , p. 173 1 p.

A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib.

Verhoeven A.J., Visser G., van Zwieten R., Gruzszyncka B., Poll-The B.T., Smit G.P.A. 1999, In: Pediatric Research. 45 , p. 881-885 5 p.

Haaruitval als kenmerkend verschijnsel voor biotinidasedeficiëntie

Visser G., Van de Logt F., Reijngoud D. J., Niezen-Koning K. E., Rake J. P., Smit G. P.A. 1 Dec 1998, In: Tijdschrift voor Kindergeneeskunde. 66 , p. 90-92 3 p.

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.

Visser G., Herwig J., Rake J.P., Niezen-Koning K.E., Verhoeven A.J., Smit G.P.A. 1998, In: Journal of Inherited Metabolic Disease. 21 , p. 227-231 5 p.

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