Pompe disease: pathogenesis, molecular genetics and diagnosis.
GAA
Pompe disease
acid alpha-1,4-glucosidase
glycogen
lysosomal storage disorder
Journal
Aging
ISSN: 1945-4589
Titre abrégé: Aging (Albany NY)
Pays: United States
ID NLM: 101508617
Informations de publication
Date de publication:
03 08 2020
03 08 2020
Historique:
received:
30
05
2020
accepted:
14
07
2020
pubmed:
4
8
2020
medline:
31
3
2021
entrez:
4
8
2020
Statut:
ppublish
Résumé
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout
Identifiants
pubmed: 32745073
doi: 10.18632/aging.103794
pii: 103794
pmc: PMC7467391
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
15856-15874Références
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