Natural history of propionic acidemia in the Amish population.
Amish
Cardiomyopathy
Newborn screen
Propionic Acidemia
Seizures
Treatment
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
13
07
2022
revised:
25
10
2022
accepted:
30
10
2022
entrez:
17
11
2022
pubmed:
18
11
2022
medline:
18
11
2022
Statut:
epublish
Résumé
Propionic acidemia (PA) in the Amish is caused by a homozygous pathogenic variant (c.1606A>G; p.Asn536Asp) in the
Identifiants
pubmed: 36393899
doi: 10.1016/j.ymgmr.2022.100936
pii: S2214-4269(22)00096-9
pmc: PMC9647228
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100936Subventions
Organisme : NHGRI NIH HHS
ID : K08 HG010490
Pays : United States
Informations de copyright
© 2022 The Authors.
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