Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
pubmed:
29
1
2021
medline:
7
4
2022
entrez:
28
1
2021
Statut:
ppublish
Résumé
Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic and genetic heterogeneity. 3-Hydroxy-isobutyryl-CoA hydrolase (
Identifiants
pubmed: 33506479
doi: 10.1055/s-0040-1722678
doi:
Substances chimiques
isobutyryl-coenzyme A
15621-60-0
Thiolester Hydrolases
EC 3.1.2.-
3-hydroxyisobutyryl-CoA hydrolase
EC 3.1.2.4
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
410-414Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None of the authors has any conflict of interest to disclose.