A Comprehensive Update on Late-Onset Pompe Disease.
chaperone
diagnosis
enzyme replacement therapy
gene therapy
late-onset Pompe disease
multi-system disease
myopathy
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
22 08 2023
22 08 2023
Historique:
received:
17
06
2023
revised:
10
08
2023
accepted:
21
08
2023
medline:
4
10
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the
Identifiants
pubmed: 37759679
pii: biom13091279
doi: 10.3390/biom13091279
pmc: PMC10526932
pii:
doi:
Substances chimiques
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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