Acetyl-leucine slows disease progression in lysosomal storage disorders.
GM2 gangliosidosis
Niemann-Pick disease type C
acetyl-leucine
lysosomal storage diseases
miglustat
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
28
04
2020
revised:
15
07
2020
accepted:
21
07
2020
entrez:
19
3
2021
pubmed:
20
3
2021
medline:
20
3
2021
Statut:
epublish
Résumé
Acetyl-dl-leucine is a derivative of the branched chain amino acid leucine. In observational clinical studies, acetyl-dl-leucine improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder, Niemann-Pick disease type C1. Here, we investigated acetyl-dl-leucine and its enantiomers acetyl-l-leucine and acetyl-d-leucine in symptomatic
Identifiants
pubmed: 33738443
doi: 10.1093/braincomms/fcaa148
pii: fcaa148
pmc: PMC7954382
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcaa148Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202834/Z/16/Z
Pays : United Kingdom
Informations de copyright
© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.
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