The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

por Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, IJlst, Lodewijk, Wanders, Ronald JA
Publicado 2012

Plasma and Erythrocyte Fatty Acid Patterns in Patients with Recurrent Depression: A Matched Case-Control Study

por Assies, Johanna, Pouwer, François, Lok, Anja, Mocking, Roel J. T., Bockting, Claudi L. H., Visser, Ieke, Abeling, Nico G. G. M., Duran, Marinus, Schene, Aart H.
Publicado 2010

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

por 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.
Publicado 2010

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

por Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.
Publicado 2014

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutatio...

por Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.
Publicado 2014