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

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 systematic liter...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Almási, Tímea, Guey, Lin T., Lukacs, Christine, Csetneki, Kata, Vokó, Zoltán, Zelei, Tamás
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6485056/
https://ncbi.nlm.nih.gov/pubmed/31023387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1063-z
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