Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

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第一作者： Bernd C,Schwahn

第一单位： Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

作者： Bernd C,Schwahn ^[1] ; Francjan,van Spronsen ^[2] ; Albert,Misko ^[3] ; Julija,Pavaine ^[4] ; Victoria,Holmes ^[5] ; Ronen,Spiegel ^[6] ; Guenter,Schwarz ^[7] ; Flora,Wong ^[8] ; Alistair,Horman ^[9] ; James,Pitt ^[10] ; Jörn Oliver,Sass ^[11] ; Charlotte,Lubout ^[2]

作者单位： Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. ^[1] Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands. ^[2] Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA. ^[3] Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.;Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. ^[4] Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. ^[5] Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel. ^[6] Center for Molecular Medicine Cologne, Köln, Germany. ^[7] Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia. ^[8] Great Ormond Street Hospital, London, UK. ^[9] Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia. ^[10] RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany. ^[11]

关键词 cPMP consensus guidelines fosdenopterin molybdenum cofactor deficiency sulfite oxidase deficiency