Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
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BioMed Central
2013
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710243/ |
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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 |
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publisher |
BioMed Central |
publishDate |
2013 |
url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710243/ |
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1611994599678541824 |