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Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

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Title: Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Authors: Ullah M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Rehman AU; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan., Shetty M; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Allen MD; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Signorini SG; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy., des Roziers CB; Laboratoire SeqOIA, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, Paris, France., Grijalva RM; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Rashid A; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland., Munir A; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan., Porretta AP; Service de cardiologie, Département cœur-vaisseaux, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.; CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Agather AR; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Dimopoulos I; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Malandain E; Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Ansar M; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Superti-Furga A; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland., Jan S; Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.; Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Calzetti G; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Vista Vision Eye Clinic, Brescia, Italy., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom., Henry LK; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom.
Source: JAMA ophthalmology [JAMA Ophthalmol] 2026 Jan 01; Vol. 144 (1), pp. 70-78.
Publication Type: Journal Article; Multicenter Study; Observational Study
Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE
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  Data: Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
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  Data: <searchLink fieldCode="AU" term="%22Ullah+M%22">Ullah M</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rehman+AU%22">Rehman AU</searchLink>; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Shetty+M%22">Shetty M</searchLink>; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.<br /><searchLink fieldCode="AU" term="%22Allen+MD%22">Allen MD</searchLink>; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.<br /><searchLink fieldCode="AU" term="%22Ullah+E%22">Ullah E</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Signorini+SG%22">Signorini SG</searchLink>; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22des+Roziers+CB%22">des Roziers CB</searchLink>; Laboratoire SeqOIA, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, Paris, France.<br /><searchLink fieldCode="AU" term="%22Grijalva+RM%22">Grijalva RM</searchLink>; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.<br /><searchLink fieldCode="AU" term="%22Rashid+A%22">Rashid A</searchLink>; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Munir+A%22">Munir A</searchLink>; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Porretta+AP%22">Porretta AP</searchLink>; Service de cardiologie, Département cœur-vaisseaux, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.; CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Agather+AR%22">Agather AR</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Dimopoulos+I%22">Dimopoulos I</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Hufnagel+RB%22">Hufnagel RB</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Malandain+E%22">Malandain E</searchLink>; Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Ansar+M%22">Ansar M</searchLink>; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan.<br /><searchLink fieldCode="AU" term="%22Antonarakis+SE%22">Antonarakis SE</searchLink>; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Superti-Furga+A%22">Superti-Furga A</searchLink>; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Jan+S%22">Jan S</searchLink>; Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.; Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.<br /><searchLink fieldCode="AU" term="%22Brooks+BP%22">Brooks BP</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Calzetti+G%22">Calzetti G</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Vista Vision Eye Clinic, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Guan+B%22">Guan B</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Quinodoz+M%22">Quinodoz M</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Henry+LK%22">Henry LK</searchLink>; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom.
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