Compilation of Genotype and Phenotype Data in
GCDH
LOVD
geographic distribution
glutaric acidemia
glutaric aciduria
glutaryl-CoA dehydrogenase
inborn errors of metabolism
variant classification
variant interpretation
variation database
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
14 Dec 2023
14 Dec 2023
Historique:
received:
19
11
2023
revised:
06
12
2023
accepted:
12
12
2023
medline:
23
12
2023
pubmed:
23
12
2023
entrez:
23
12
2023
Statut:
epublish
Résumé
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (
Identifiants
pubmed: 38137040
pii: genes14122218
doi: 10.3390/genes14122218
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM