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. |
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| 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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