Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.
pyridoxine phosphate oxidase deficiency
pyridoxine-dependent epilepsy
Journal
Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
pubmed:
10
8
2019
medline:
6
10
2020
entrez:
10
8
2019
Statut:
ppublish
Résumé
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with
Identifiants
pubmed: 31397616
doi: 10.1177/0883073819863992
doi:
Substances chimiques
Pyridoxaminephosphate Oxidase
EC 1.4.3.5
Pyridoxine
KV2JZ1BI6Z
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM