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Methylmalonic acidemia: Current status and research priorities

31 May 2018

Abstract excerpt

Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. Here, we review the improvement of pathogenesis, diagnosis and...

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PMID: 29862147
DOI: 10.5582/irdr.2018.01026

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