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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2014
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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 |