Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Abstract Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caused by the deficiency of methylmalonyl-CoA mutase (MMA mut; EC 5.4.99.2). A systema...

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Bibliographic Details
Main Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inherited metabolic disorder
Methylmalonic acidemia/aciduria
Methylmalonyl-CoA mutase deficiency
Epidemiology
Meta-analysis
Newborn screening
Online Access:http://link.springer.com/article/10.1186/s13023-019-1063-z

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http://link.springer.com/article/10.1186/s13023-019-1063-z

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