Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria-Reference-Cited by-同舟云学术

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

Published:2013 Issue:1 Volume:8 Page:98
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

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,

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference17 articles.

1. Excessive excretion of β-alanine and of 3-hydroxypropionic,R- andS-3-aminoisobutyric,R- andS-3-hydroxyisobutyric andS-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

3. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase

4. Physiology and pathophysiology of organic acids in cerebrospinal fluid

5. Fast and accurate short read alignment with Burrows-Wheeler transform

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