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Ghoraba D.


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The Diagnostic Approaches to Methylmalonic Acidemia Ghoraba D. Zaki M.
The Diagnostic Approaches to Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It results commonly from a defect in the gene encoding methylmalonyl CoA mutase apoenzyme MCM (mut MMA or vitamin B12-unresponsive MMA)....
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