Homocystinuria in a 14-year-old girl with neurodevelopmental delay.

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Title: Homocystinuria in a 14-year-old girl with neurodevelopmental delay.
Authors: Mureau N; Department of Biochemistry, Bretonneau University Hospital, Tours, France. Electronic address: nicolasmureau11@gmail.com., Chapart F; Department of Paediatric Neurology, Gatien-de-Clocheville University Hospital, Tours, France., Perivier M; Department of Paediatric Neurology, Gatien-de-Clocheville University Hospital, Tours, France., Benz-de Bretagne I; Department of Biochemistry, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France., Tardieu M; Centre de Référence des Maladies Héréditaires du Métabolisme ToTeM, Service de Médecine Pédiatrique, Hôpital Clocheville, Tours, France., Labarthe F; Centre de Référence des Maladies Héréditaires du Métabolisme ToTeM, Service de Médecine Pédiatrique, Hôpital Clocheville, Tours, France; Inserm UMR1069, Nutrition, Croissance et Cancer, Faculté de Médecine, Université François-Rabelais de Tours, 10, boulevard Tonnellé, 37000 Tours, France., Khanna RK; Department of Ophthalmology, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France., Blasco H; Department of Biochemistry, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France.
Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2025 Mar; Vol. 48 (3), pp. 104386. Date of Electronic Publication: 2024 Dec 13.
Publication Type: Letter
Journal Info: Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
Description
ISSN:1773-0597
DOI:10.1016/j.jfo.2024.104386