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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.
Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. Among authors: duran m. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
Ventura FV, Costa CG, IJlst L, Dorland L, Duran M, Jakobs C, de Almeida IT, Wanders RJ. Ventura FV, et al. Among authors: duran m. J Inherit Metab Dis. 1997 Jul;20(3):423-6. doi: 10.1023/a:1005315003913. J Inherit Metab Dis. 1997. PMID: 9266372 No abstract available.
1,393 results