Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relatively high frequency. A rapid and reliable method...

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Bibliografiska uppgifter
Huvudupphovsmän: Van Hove, J L, Zhang, W, Kahler, S G, Roe, C R, Chen, Y T, Terada, N, Chace, D H, Iafolla, A K, Ding, J H, Millington, D S
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1993
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682046/
https://ncbi.nlm.nih.gov/pubmed/8488845
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