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Methylmalonic Acidemia Diagnosis by Laboratory Methods

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive d...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Rep Biochem Mol Biol
Hauptverfasser: Keyfi, Fatemeh, Talebi, Saeed, Varasteh, Abdol-Reza
Format: Artigo
Sprache:Inglês
Veröffentlicht: Varastegan Institute for Medical Sciences 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5214677/
https://ncbi.nlm.nih.gov/pubmed/28070528
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