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. |
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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39674690 AccessLevel: 2 PubType: Editorial & Opinion PubTypeId: editorialOpinion PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Homocystinuria in a 14-year-old girl with neurodevelopmental delay. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mureau+N%22">Mureau N</searchLink>; Department of Biochemistry, Bretonneau University Hospital, Tours, France. Electronic address: nicolasmureau11@gmail.com.<br /><searchLink fieldCode="AU" term="%22Chapart+F%22">Chapart F</searchLink>; Department of Paediatric Neurology, Gatien-de-Clocheville University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Perivier+M%22">Perivier M</searchLink>; Department of Paediatric Neurology, Gatien-de-Clocheville University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Benz-de+Bretagne+I%22">Benz-de Bretagne I</searchLink>; Department of Biochemistry, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France.<br /><searchLink fieldCode="AU" term="%22Tardieu+M%22">Tardieu M</searchLink>; Centre de Référence des Maladies Héréditaires du Métabolisme ToTeM, Service de Médecine Pédiatrique, Hôpital Clocheville, Tours, France.<br /><searchLink fieldCode="AU" term="%22Labarthe+F%22">Labarthe F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Khanna+RK%22">Khanna RK</searchLink>; Department of Ophthalmology, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France.<br /><searchLink fieldCode="AU" term="%22Blasco+H%22">Blasco H</searchLink>; Department of Biochemistry, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227804128%22">Journal francais d'ophtalmologie</searchLink> [J Fr Ophtalmol] 2025 Mar; Vol. 48 (3), pp. 104386. <i>Date of Electronic Publication: </i>2024 Dec 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Letter – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Masson%22">Masson </searchLink><i>Country of Publication: </i>France <i>NLM ID: </i>7804128 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1773-0597 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201815512%22">01815512 </searchLink><i>NLM ISO Abbreviation: </i>J Fr Ophtalmol <i>Subsets: </i>MEDLINE; In Process |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39674690 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.jfo.2024.104386 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 104386 Titles: – TitleFull: Homocystinuria in a 14-year-old girl with neurodevelopmental delay. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mureau N – PersonEntity: Name: NameFull: Chapart F – PersonEntity: Name: NameFull: Perivier M – PersonEntity: Name: NameFull: Benz-de Bretagne I – PersonEntity: Name: NameFull: Tardieu M – PersonEntity: Name: NameFull: Labarthe F – PersonEntity: Name: NameFull: Khanna RK – PersonEntity: Name: NameFull: Blasco H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2025 Mar Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1773-0597 Numbering: – Type: volume Value: 48 – Type: issue Value: 3 Titles: – TitleFull: Journal francais d'ophtalmologie Type: main |
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