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

Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: BioMed Central 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710243/