Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

INTRODUCTION: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by a mutation in the MMAA gene, which is essenti...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Wesół-Kucharska, Dorota, Kaczor, Magdalena, Pajdowska, Magdalena, Ehmke vel Emczyńska-Seliga, Ewa, Bogdańska, Anna, Kozłowski, Dariusz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Rokicki, Dariusz
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6950841/
https://ncbi.nlm.nih.gov/pubmed/31921599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100559
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