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/
id pubmed-3710243
recordtype oai_dc
spelling pubmed-37102432013-07-13 Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria 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 Research BioMed Central 2013-07-09 /pmc/articles/PMC3710243/ /pubmed/23835272 http://dx.doi.org/10.1186/1750-1172-8-98 Text en Copyright © 2013 Marcadier et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
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
spellingShingle 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
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
author_facet 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
author_sort Marcadier, Julien L
title Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
title_short Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
title_full Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
title_fullStr Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
title_full_unstemmed Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
title_sort mutations in aldh6a1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
description
publisher BioMed Central
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710243/
_version_ 1611994599678541824