Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.

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第一作者： Marisa W,Friederich

第一单位： Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.

作者： Marisa W,Friederich ^[1] ; Abdallah F,Elias ^[2] ; Alice,Kuster ^[3] ; Lucia,Laugwitz ^[4] ; Austin A,Larson ^[5] ; Aaron P,Landry ^[6] ; Logan,Ellwood-Digel ^[1] ; David M,Mirsky ^[7] ; David,Dimmock ^[1] ; Jaclyn,Haven ^[8] ; Hua,Jiang ^[9] ; Kenneth N,MacLean ^[3] ; Katie,Styren ^[1] ; Jonathan,Schoof ^[1] ; Louise,Goujon ^[3] ; Thomas,Lefrancois ^[3] ; Maike,Friederich ^[4] ; Curtis R,Coughlin ^[10] ; Ruma,Banerjee ^[11] ; Tobias B,Haack ^[1] ; Johan L K,Van Hove ^[1]

作者单位： Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado. ^[1] Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado. ^[2] Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana. ^[3] Department of Neurometabolism, University Hospital of Nantes, Nantes, France. ^[4] INRAE, UMR1280, PhAN, Nantes Université, Nantes, France. ^[5] Institut für Medizinische Genetik und Angewandte Genomik, Universitätsklinikum, University of Tübingen, Tübingen, Germany. ^[6] Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan. ^[7] Department of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, Colorado. ^[8] Rady Children's Institute for Genomic Medicine, San Diego, California. ^[9] Service de Génétique Clinique, University Hospital of Rennes, Rennes, France. ^[10] Pediatric Radiology, University Hospital of Nantes, Nantes, France. ^[11] Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. ^[12]

关键词 Leigh disease complex IV hydrogen sulfide sulfide:quinone oxidoreductase treatment