Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment von Bosch, Annet M, Abeling, Nico G. G. M, IJlst, Lodewijk, Knoester, Hennie, van der Pol, W. Ludo, Stroomer, Alida E. M, Wanders, Ronald J, Visser, Gepke, Wijburg, Frits A, Duran, Marinus, Waterham, Hans R

Volltext

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities von van Kuilenburg, André B.P., Meinsma, Rutger, Beke, Eva, Assmann, Birgit, Ribes, Antonia, Lorente, Isabel, Busch, Rebekka, Mayatepek, Ertan, Abeling, Nico G.G.M., van Cruchten, Arno, Stroomer, Alida E.M., van Lenthe, Henk, Zoetekouw, Lida, Kulik, Willem, Hoffmann, Georg F., Voit, Thomas, Wevers, Ron A., Rutsch, Frank, van Gennip, Albert H.

Volltext

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? von Van Kuilenburg, André B P, Stroomer, Alida E M, Van Lenthe, Henk, Abeling, Nico G G M, Van Gennip, Albert H

Volltext

Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography von Van Kuilenburg, André B.P., Stroomer, Alida E.M., Peters, Godefridus J., Van Gennip, Albert H.

Volltext