Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
about
Biomarkers and Algorithms for the Diagnosis of Vitamin B12 DeficiencyFORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Linking traits based on their shared molecular mechanisms.A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of CobalaminMetabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegansUtility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Co-expression network analysis identified six hub genes in association with metastasis risk and prognosis in hepatocellular carcinoma.Disruptions in valine degradation affect seed development and germination in Arabidopsis."Classical organic acidurias": diagnosis and pathogenesis.Enzymes involved in branched-chain amino acid metabolism in humans.The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation.Overexpression of protein kinase STK25 in mice exacerbates ectopic lipid accumulation, mitochondrial dysfunction and insulin resistance in skeletal muscle.Disorders of branched chain amino acid metabolism.
P2860
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P2860
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
description
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name
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@ast
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en-gb
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@nl
type
label
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@ast
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en-gb
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@nl
prefLabel
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@ast
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en-gb
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutations in ALDH6A1 encoding ...... ansient methylmalonic aciduria
@en
P2093
Amanda M Smith
Daniela Pohl
Dennis E Bulman
Jacek Majewski
Julien L Marcadier
Michael T Geraghty
Osama Y Al-Dirbashi
Pranesh Chakraborty
Sacha Ferdinandusse
P2860
P2888
P3181
P356
10.1186/1750-1172-8-98
P407
P577
2013-01-01T00:00:00Z
P5875
P6179
1044015750