3-Methylglutaconic Aciduria Type I Due to
3-OH-isovalerylcarnitine
3-methylglutaconic aciduria type I
3-methylglutaconyl-coenzyme A hydratase (MGH) deficiency
AUH defect
case report
newborn screening
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
16 Apr 2022
16 Apr 2022
Historique:
received:
21
03
2022
revised:
10
04
2022
accepted:
15
04
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the
Identifiants
pubmed: 35457240
pii: ijms23084422
doi: 10.3390/ijms23084422
pmc: PMC9029672
pii:
doi:
Types de publication
Case Reports
Review
Langues
eng
Sous-ensembles de citation
IM
Références
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