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Page 1
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. Khayat M, et al. Among authors: wevers ra. Mol Genet Metab. 2008 Aug;94(4):431-434. doi: 10.1016/j.ymgme.2008.04.008. Epub 2008 May 15. Mol Genet Metab. 2008. PMID: 18485777
Aminoacylase I deficiency: a novel inborn error of metabolism.
Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W. Van Coster RN, et al. Among authors: wevers ra. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. doi: 10.1016/j.bbrc.2005.10.126. Epub 2005 Nov 2. Biochem Biophys Res Commun. 2005. PMID: 16274666
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Among authors: wevers ra. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672
524 results