The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
NPC1
NPC2
Niemann–Pick Disease
Olipudase α
SMPD1
acid sphingomyelinase deficiency
lung transplant
miglustat
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
11 Feb 2024
11 Feb 2024
Historique:
received:
06
01
2024
revised:
05
02
2024
accepted:
08
02
2024
medline:
24
2
2024
pubmed:
24
2
2024
entrez:
24
2
2024
Statut:
epublish
Résumé
Niemann-Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene
Identifiants
pubmed: 38397448
pii: biom14020211
doi: 10.3390/biom14020211
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM