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Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

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作者: Friedman,J. [1] ; Roze,E. [2] ; Abdenur,J.E. [3] ; Chang,R. [4] ; Gasperini,S. [5] ; Saletti,V. [6] ; Wali,G.M. [7] ; Eiroa,H. [8] ; Neville,B. [9] ; Felice,A. [10] ; Parascandalo,R. [11] ; Zafeiriou,D.I. [12] ; Arrabal-Fernandez,L. [13] ; Dill,P. [14] ; Eichler,F.S. [15] ; Echenne,B. [16] ; Gutierrez-Solana,L.G. [17] ; Hoffmann,G.F. [18] ; Hyland,K. [19] ; Kusmierska,K. [20] ; Tijssen,M.A.J. [21] ; Lutz,T. [22] ; Mazzuca,M. [23] ; Penzien,J. [24] ; Poll-The,B.T. [25] ; Sykut-Cegielska,J. [26] ; Szymanska,K. [27] ; Th?ny,B. ; Blau,N.
作者单位: Department of Neurology, Academic Medical Center, Amsterdam, Netherlands [1] Department of Pediatrics, Mater Dei Hospital, Valletta, Malta [2] Department of Pediatric Neurology, Gui de Chauliac Hospital, Montpellier, France [3] University Children's Hospital Heidelberg, Heidelberg, Germany [4] First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece [5] Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland [6] Department of Neurosciences and Pediatrics, University of California at San Diego, Rady Children's [7] Klinik für Kinder und Jugendliche, Augsburg, Germany [8] Neurosciences Unit, University College, London Institute of Child Health, London, United Kingdom [9] Department of Pediatric Neurology, Academic Medical Center, Amsterdam, Netherlands [10] Servicio de Errores Congenitos Del Metabolismo, Hospital de Pediatria J. P. Garrahan, Buenos Aires [11] Lyon Neuroscience Research Center, University Lyon 1 and Service d'Audiologie et d'Exporations [12] Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta [13] Department of Pediatrics, Virgen de Las Nieves Hospital, Granada, Spain [14] Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich [15] Laboratory of Metabolic Disorders, Department of Biochemistry and Experimental Medicine, Children's [16] Department of Neurology, UMRS 975, Salpetriere Hospital, Paris, France [17] Developmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy [18] Neuroscience Department, University of Florence, Anna Meyer Children's Hospital, Florence, Italy [19] Seccion de Neurologia, Hospital Infantil Universitario Nino Jesus, Madrid, Spain [20] Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel [21] Department of Child Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA [22] Department of Experimental and Clinical Neuropathology, Polish Academy of Science Mossakowski [23] Neurospecialities Center, Belgaum, India [24] University Children's Hospital Heidelberg, Heidelberg, Germany, Division of Clinical Chemistry and [25] Medical Neurogenetics, Atlanta, GA, United States [26] Children's Hospital of Orange County, Orange, CA, United States [27]
发布时间 2013-11-20
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