File:2023 EN-RUS TRANSL Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1.pdf

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Original file ‎(1,239 × 1,752 pixels, file size: 1.91 MB, MIME type: application/pdf, 21 pages)

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Russian translation of the 2023 case report "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"

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English: Russian translation of the 2023 case report "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". Translated by Wikipedia user CopperKettle.
Русский: Русский перевод отчета о клиническом случае церебральной фолатной недостаточности (Potic et al., 2023) "Гипомиелинизация, вызванная новым гомозиготным патогенным вариантом гена FOLR1: случай полного исчезновения клинических симптомов и радиологических нарушений на фоне перорального приема фолиновой кислоты, и обзор литературы". Описана ЦФН у двух детей, брата и сестры из Сербии. Врачам удалось достичь полной ремиссии у девочки с ЦФН.
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339608/

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 (Potic et al., 2023)
Author Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard, translated into Russian by me, Wikipedia user CopperKettle (Тимеев Артём Геннадьевич)

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current10:08, 6 November 2023Thumbnail for version as of 10:08, 6 November 20231,239 × 1,752, 21 pages (1.91 MB)CopperKettle (talk | contribs)Uploaded a work by Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard, translated into Russian by me, Wikipedia user CopperKettle (Тимеев Артём Геннадьевич) from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339608/ Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of...

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