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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. The clinical picture of late-onset forms is highly variable with symptoms ranging from acute metabo...

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Detalles Bibliográficos
Autor principal: Grünert, Sarah C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222585/
https://www.ncbi.nlm.nih.gov/pubmed/25200064
http://dx.doi.org/10.1186/s13023-014-0117-5