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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Ansar, Muhammad; Ranza, Emmanuelle; Shetty, Madhur; Paracha, Sohail A; Azam, Maleeha; Kern, Ilse; Iwaszkiewicz, Justyna; Farooq, Omer; Pournaras, Constantin J; Malcles, Ariane; Kecik, Mateusz; Rivolta, Carlo; Muzaffar, Waqar; Qurban, Aziz; Ali, Liaqat; Aggoun, Yacine; Santoni, Federico A; Makrythanasis, Periklis; Ahmed, Jawad; Qamar, Raheel; Sarwar, Muhammad T; Henry, L Keith; Antonarakis, Stylianos E.
Afiliação
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Shetty M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Paracha SA; Department of Biomedical Sciences, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND, USA.
  • Azam M; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Kern I; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
  • Iwaszkiewicz J; Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Farooq O; Swiss Institute of Bioinformatics, Molecular Modeling Group, University of Lausanne, Lausanne, Switzerland.
  • Pournaras CJ; Bahria University Medical and Dental College, Karachi, Pakistan.
  • Malcles A; Hirslanden Clinique La Colline, Geneva, Switzerland.
  • Kecik M; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland.
  • Rivolta C; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland.
  • Muzaffar W; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Qurban A; Department of Ophthalmology, University Hospital Basel, Switzerland.
  • Ali L; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
  • Aggoun Y; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan.
  • Santoni FA; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan.
  • Makrythanasis P; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
  • Ahmed J; Pediatric Cardiology, Geneva University Hospitals, Geneva, Switzerland.
  • Qamar R; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Sarwar MT; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Henry LK; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Antonarakis SE; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
Hum Mol Genet ; 29(4): 618-623, 2020 03 13.
Article em En | MEDLINE | ID: mdl-31903486
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Degeneração Retiniana / Taurina / Glicoproteínas de Membrana / Cardiomiopatias Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Degeneração Retiniana / Taurina / Glicoproteínas de Membrana / Cardiomiopatias Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article