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

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026695/
https://www.ncbi.nlm.nih.gov/pubmed/21110228
http://dx.doi.org/10.1007/s10545-010-9242-z

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