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Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

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Title: Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Authors: Guertin A; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France., Khanna RK; CHRU Tours, Department of Ophthalmology, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France., Tardieu M; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France., François M; CHRU Tours, Service de néphrologie-HTA, dialyses et transplantation rénale, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France., Blasco H; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Laboratoire de Biochimie métabolique, hôpital Bretonneau, CHRU, Tours, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France., de Bretagne IB; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Laboratoire de Biochimie métabolique, hôpital Bretonneau, CHRU, Tours, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France., Benoist JF; Department of Biochemistry, Hôpital Necker, AP-HP, and Université Paris-Saclay, Paris, France., Bigot A; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France., Tressel N; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France., Maillot F; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France., Labarthe F; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Université de Tours, Inserm, Nutrition, Croissance et Cancer, UMR 1069, 37000 Tours, France.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 27; Vol. 45, pp. 101279. Date of Electronic Publication: 2025 Nov 27 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
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  Data: <searchLink fieldCode="AU" term="%22Guertin+A%22">Guertin A</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.<br /><searchLink fieldCode="AU" term="%22Khanna+RK%22">Khanna RK</searchLink>; CHRU Tours, Department of Ophthalmology, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France.<br /><searchLink fieldCode="AU" term="%22Tardieu+M%22">Tardieu M</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.<br /><searchLink fieldCode="AU" term="%22François+M%22">François M</searchLink>; CHRU Tours, Service de néphrologie-HTA, dialyses et transplantation rénale, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France.<br /><searchLink fieldCode="AU" term="%22Blasco+H%22">Blasco H</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Laboratoire de Biochimie métabolique, hôpital Bretonneau, CHRU, Tours, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France.<br /><searchLink fieldCode="AU" term="%22de+Bretagne+IB%22">de Bretagne IB</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Laboratoire de Biochimie métabolique, hôpital Bretonneau, CHRU, Tours, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France.<br /><searchLink fieldCode="AU" term="%22Benoist+JF%22">Benoist JF</searchLink>; Department of Biochemistry, Hôpital Necker, AP-HP, and Université Paris-Saclay, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bigot+A%22">Bigot A</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.<br /><searchLink fieldCode="AU" term="%22Tressel+N%22">Tressel N</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.<br /><searchLink fieldCode="AU" term="%22Maillot+F%22">Maillot F</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Université de Tours, Inserm, iBrain, UMR 1253, 37000 Tours, France.<br /><searchLink fieldCode="AU" term="%22Labarthe+F%22">Labarthe F</searchLink>; CHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.; Université de Tours, Inserm, Nutrition, Croissance et Cancer, UMR 1069, 37000 Tours, France.
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        Text: English
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      – TitleFull: Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
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