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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
| Title: | 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 | Authors: | Potic, Ana D; Perrier, Stefanie; Radovic, Tijana; Gavrilovic, Svetlana; Ostojic, Jelena V   ; Tran, Luan T; Thiffault, Isabelle; Pastinen, Tomi; Schiffmann, Raphael; Bernard, Genevieve |
Issue Date: | 2023 | Publication: | ORPHANET JOURNAL OF RARE DISEASES | ISSN: | 1750-1172 Orphanet Journal of Rare Diseases Search Idenfier |
Type: | Article | Collation: | vol. 18 br. 1 str. Art. No 187 | DOI: | 10.1186/s13023-023-02802-6 | WoS-ID: | 001029963100002 | Scopus-ID: | 2-s2.0-85164845626 | PMID: | 37443037 | PMCID: | PMC10339608 | URI: | https://enauka.gov.rs/handle/123456789/811177 | Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | 21M21 |
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