Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
B6
B6RDs
PLPBP
PLPHP
PROSC
pyridoxine
seizures
status epilepticus
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
06
04
2022
accepted:
26
09
2022
entrez:
3
11
2022
pubmed:
4
11
2022
medline:
4
11
2022
Statut:
epublish
Résumé
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in
Identifiants
pubmed: 36324377
doi: 10.3389/fneur.2022.913652
pmc: PMC9618642
doi:
Types de publication
Case Reports
Langues
eng
Pagination
913652Informations de copyright
Copyright © 2022 Alsubhi, Osterman, Chrestian, Dubeau, Buhas and Srour.
Déclaration de conflit d'intérêts
The authors declare that reposting the case was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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