The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

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第一作者： Sonam,Gurung

第一单位： Great Ormond Street Institute of Child Health, University College London, London, UK.

作者： Sonam,Gurung ^[1] ; Saketh,Karamched ^[2] ; Dany,Perocheau ^[1] ; Kiran K,Seunarine ^[1] ; Tom,Baldwin ^[1] ; Haya,Alrashidi ^[1] ; Loukia,Touramanidou ^[1] ; Claire,Duff ^[1] ; Nour,Elkhateeb ^[3] ; Karolina M,Stepien ^[4] ; Reena,Sharma ^[4] ; Andrew,Morris ^[5] ; Thomas,Hartley ^[5] ; Laura,Crowther ^[5] ; Stephanie,Grunewald ^[6] ; Maureen,Cleary ^[6] ; Helen,Mundy ^[7] ; Anupam,Chakrapani ^[6] ; Spyros,Batzios ^[6] ; James,Davison ^[6] ; Emma,Footitt ^[6] ; Karin,Tuschl ^[6] ; Robin,Lachmann ^[8] ; Elaine,Murphy ^[8] ; Saikat,Santra ^[9] ; Mari-Liis,Uudelepp ^[6] ; Mildrid,Yeo ^[6] ; Patrick F,Finn ^[10] ; Alex,Cavedon ^[10] ; Summar,Siddiqui ^[10] ; Lisa,Rice ^[10] ; Paolo G V,Martini ^[10] ; Andrea,Frassetto ^[10] ; Simon,Heales ^[1] ; Philippa B,Mills ^[1] ; Paul,Gissen ^[11] ; Jonathan D,Clayden ^[1] ; Christopher A,Clark ^[1] ; Simon,Eaton ^[1] ; Tammy L,Kalber ^[2] ; Julien,Baruteau ^[11]

作者单位： Great Ormond Street Institute of Child Health, University College London, London, UK. ^[1] Centre for Advanced Biomedical Imaging, University College London, London, UK. ^[2] Great Ormond Street Hospital for Children NHS Trust, London, UK.;Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK. ^[3] Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK. ^[4] Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK. ^[5] Great Ormond Street Hospital for Children NHS Trust, London, UK. ^[6] Evelina London Children's Hospital, St Thomas's Hospital, London, UK. ^[7] Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK. ^[8] Clinical IMD, Birmingham Children's Hospital, Birmingham, UK. ^[9] Moderna, Inc., Cambridge, Massachusetts, USA. ^[10] Great Ormond Street Institute of Child Health, University College London, London, UK.;Great Ormond Street Hospital for Children NHS Trust, London, UK.;National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK. ^[11]

关键词 123I‐ioflupane ammonia argininosuccinate lyase argininosuccinic aciduria dopamine movement disorder nitric oxide positron emission tomography urea cycle