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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...
Kaydedildi:
| Yayımlandı: | Orphanet J Rare Dis |
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| Yazar: | |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2014
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4222585/ https://ncbi.nlm.nih.gov/pubmed/25200064 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0117-5 |
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