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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

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第一作者: Foley,A.R.
作者单位: Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle [1] Department of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases, University College [2] Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia [3] Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia [4] Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, M13 9WL [5] Clinical Chemistry, Sheffield Children's Hospital, Sheffield, S10 2TH, United Kingdom [6] Department of Clinical Pharmacology and Therapeutics, Kyoto University Hospital, Sakyo-ku, Kyoto [7] Department of Audiology, Children's Hospital at Westmead, Sydney, NSW 2145, Australia [8] Department of Paediatric Neurology, Evelina Children's Hospital, St. Thomas' Hospital, London, SE1 [9] Royal Aberdeen Children's Hospital, Aberdeen, AB15 6XS, United Kingdom [10] Metabolic Medicine Unit, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom [11] Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and [12] Department of Pathology, Beaumont Hospital, Dublin, 9, Ireland [13] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, NSW 2145 [14] Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Disorders, University College London [15] Neurology Department, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom [16] Dr. John T. Macdonald Foundation, Department of Human Genetics, Hussman Institute for Human [17] AP-HP H?pital Marin de Hendaye, Hendaye 64700, France [18] Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, S10 2TH, United [19] Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA [20] Department of Paediatric Neurology, Children's University Hospital, Dublin, 1, Ireland [21] Unité de Génétique Médicale et Laboratoire Associe, INSERM UMR S910, Université Saint Joseph [22] Clinical and Molecular Genetics Unit, University College London, Institute of Child Health, London [23]
发布时间 2014-04-03
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Brain: A journal of neurology

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