Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

BACKGROUND: Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, 3-aminoisobutyric and methylmalonic acids, as well as β-alanine. Existing reports d...

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Главные авторы: Marcadier, Julien L, Smith, Amanda M, Pohl, Daniela, Schwartzentruber, Jeremy, Al-Dirbashi, Osama Y, Majewski, Jacek, Ferdinandusse, Sacha, Wanders, Ronald JA, Bulman, Dennis E, Boycott, Kym M, Chakraborty, Pranesh, Geraghty, Michael T
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2013
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710243/
https://ncbi.nlm.nih.gov/pubmed/23835272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-98
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