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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Humans have an active endogenous D-lactate dehydrogenase

van Eerde A.M., Lichtenbelt K.D., Duran K.J., Monroe G.R., van Roosmalen M.J., Oostendorp M., Visser G., Nijman I.J., Jans J.J.M., Knoers V.V.A.M., Cuppen E.P.J.G., Verhoeven N.M., van Haaften G.W. 8 Jun 2013,

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

Diekman E.F., Boelen C.C.A., Prinsen H.C.M.T., IJlst L., Duran M., de Koning T.J., Waterham H.R., Wanders R.J.A., Wijburg F.A., Visser G. 1 Jan 2013, 7 , p. 1-6 6 p.

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood

Prinsen H.C.M.T., Holwerda-Loof N.E., de Sain - van der Velden M.G.M., Visser G., Verhoeven - Duif N.M. 2013, In: Clinical biochemistry. 46 , p. 1272-1275 4 p.

Differences between acylcarnitine profiles in plasma and bloodspots

de Sain - van der Velden M.G.M., Diekman E.F., Jans J.J.M., van der Ham M., Prinsen B.H., Visser G., Verhoeven N.M. 2013, In: Molecular Genetics and Metabolism. 110 , p. 116-21 6 p.

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU

Jans J.J.M., de Sain - van der Velden M.G.M., van Hasselt P.M., van den Hurk Th.A.M., Vaz F.M., Visser G., Verhoeven - Duif N.M. 2013, In: Molecular Genetics and Metabolism. 109 , p. 121-124 4 p.

Clinical pathways for inborn errors of metabolism: warranted and feasible

Demirdas S., van Kessel I.N., Korndewal M.J., Hollak C.E., Meutgeert H., Klaren A., van Rijn M., van Spronsen F.J., Asselbergs F.W., Blank A.C., Diekman E.F., van Hasselt P.M., van den Hurk Th.A.M., Timmer C., Visser G., de Valk H.W., Dutch Working group x., Bosch A.M. 2013, In: Orphanet Journal of Rare Diseases. 25 , p. 37 1 p.

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.

Sollie A., Sijmons R.H., Lindhout D., van der Ploeg AT, Rubio-Gozalbo M.E., Smit G.P., Verheijen F., Waterham H.R., van Weely S, Wijburg F.A., Wijburg R., Visser G. 2013, In: Human Mutation. 34 , p. 967-973 7 p.

SUPPLEMENTATION OF PKU PATIENTS WITH KEYOMEGA (R) NORMALIZES DHA AND AA LEVELS

Jans J. J., de Sain-Van der Velde M., van Hasselt P. M., van den Hurk D. A., Vaz F. M., Visser G., Verhoeven-Duif N. M. Sep 2012, In: Journal of Inherited Metabolic Disease. 35 , p. S39-S39 1 p.

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.

Visser G., de Jager W., Verhagen L.P., Smit G.P., Wijburg F.A., Prakken A.B.J., Coffer P.J, Buitenhuis M. 2012, In: Journal of Inherited Metabolic Disease. 35 , p. 287-300 14 p.

Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants

Albersen M., Groenendaal F., van der Ham M., de Koning T.J., Bosma M., Visser W.F., Visser G., de Sain - van der Velden M., Verhoeven - Duif N.M. 2012, In: Pediatrics. 130 , p. e191-8 8 p.

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