Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of
FORL1
FRa
cerebral folate deficiency
epileptic spasms
folinic acid
ketogenic diet
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
10
05
2020
revised:
24
01
2021
accepted:
26
01
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
Mutations in the
Identifiants
pubmed: 34258135
doi: 10.1002/jmd2.12206
pii: JMD212206
pmc: PMC8260484
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3-9Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Maria T. Papadopoulou, Efterpi Dalpa, Michalis Portokalas, Irene Katsanika, Katerina Tirothoulaki, Martha Spilioti, Spyros Gerou, Barbara Plecko, and Athanassios Evangeliou declare that they have no conflict of interest.
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