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Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features

✍ Scribed by M. J. Bennett; R. J. Pollitt; J. M. Land; M. J. Turner; C. H. Cheetham


Book ID
105312542
Publisher
Springer
Year
1987
Tongue
English
Weight
174 KB
Volume
10
Category
Article
ISSN
0141-8955

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Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the molecular basis of multiple acyl-CoA dehydrogenation deficiency (MADD), an autosomal recessively inherited and clinically heterogeneous disease that has been divided into three clinical forms: a neonatal-onset fo