- Tytuł:
- Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
- Autorzy:
- Źródło:
- Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 13; Vol. 18 (1), pp. 187. Date of Electronic Publication: 2023 Jul 13.
- Typ publikacji:
- Review; Journal Article
- MeSH Terms:
-
Folic Acid Deficiency*/diagnosis
Folic Acid Deficiency*/drug therapy
Folic Acid Deficiency*/geneticsNeuroaxonal Dystrophies *
Epilepsy*/genetics
Humans ; Leucovorin/therapeutic use ; Folate Receptor 1/genetics ; Folate Receptor 1/therapeutic use - SCR Disease Name:
- Neurodegeneration Due To Cerebral Folate Transport Deficiency
Czasopismo naukowe