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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Hereditaire fructose-intolerantie

Rumping Lynne, Waterham H.R., Kok I.L., van Hasselt P.M., Visser G. 2014, In: Nederlands Tijdschrift voor Geneeskunde. 158 , p. A6889 4 p.

Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone.

Bendadi F., de Koning T.J., Visser G., Prinsen H.C.M.T., de Sain - van der Velden M.G.M., Verhoeven - Duif N.M., Sinnema G., van Spronsen F.J., van Hasselt P.M. 2014, In: Journal of Pediatrics. 164 , p. 398-401 4 p.

Muscle MRI in patients with long-chain fatty acid oxidation disorders

Diekman E.F., van der Pol W.L., Nievelstein R.A.J., Houten S.M., Wijburg F.A., Visser G. 2014, In: Journal of Inherited Metabolic Disease. 37 , p. 405-413 9 p.

Liver transplantation in glycogen storage disease type I

Boers Susanna J B, Visser Gepke, Smit Peter G P A, Fuchs Sabine A 2014, In: Orphanet Journal of Rare Diseases. 9 , p. 47 1 p.

Lysosomale ziekten en therapeutische opties: een overzicht

Visser G., Wijburg F.A. 2014, p. 391-409 19 p.

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

de Ruijter J, Broere L., Mulder M.F., van der Ploeg AT, Rubio-Gozalbo M.E., Wortmann S.B., Visser G., Wijburg F.A. 2014, In: Journal of Inherited Metabolic Disease. 37 , p. 447-454 8 p.

PEX6 mutations can be missed by screening of plasma very long-chain fatty acid profiles

Visser G., de Sain - van der Velden M.G.M., Ferdinandusse S., Waterham H.R. 3 Sep 2013,

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. 3 Sep 2013,

Differences between acylcarnitine profiles in plasma and bloodspots

de Sain - van der Velden M.G.M., Diekman E.F., Jans J.J., van der Ham M., Prinsen H.C.M.T., Visser G., Verhoeven - Duif N.M. 3 Sep 2013,

D-Lactic aciduria: an inborn error of metabolism after all?

Jans J.J.M., van Eerde A.M., Lichtenbelt K.D., Duran K.J., Monroe G.R., Gerrits J., van Roosmalen M.J., van Aalderen M., Koot B., Oostendorp M., Visser G., Nijman L., Knoers V.V.A.M., de Koning T.J., Cuppen E.P.J.G., van Haaften G.W., Verhoeven - Duif N.M. 3 Sep 2013,

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