作者：
Michot,C. [1]
;
Hubert,L. [2]
;
Romero,N.B. [3]
;
Gouda,A. [4]
;
Mamoune,A. [5]
;
Mathew,S. [6]
;
Kirk,E. [7]
;
Viollet,L. [8]
;
Rahman,S. [9]
;
Bekri,S. [10]
;
Peters,H. [11]
;
McGill,J. [12]
;
Glamuzina,E. [13]
;
Farrar,M. [14]
;
VonDerHagen,M. [15]
;
Alexander,I.E. [16]
;
Kirmse,B. [17]
;
Barth,M. [18]
;
Laforet,P. [19]
;
Benlian,P. [20]
;
Munnich,A. [21]
;
Jeanpierre,M. ;
Elpeleg,O. ;
Pines,O. ;
Delahodde,A. ;
DeKeyzer,Y. ;
DeLonlay,P.
作者单位：
Department of Medical Genetics, Angers C.H.U., Angers, France
[1]
UCL Institute of Child Health, London WC1 1EH, United Kingdom, Metabolic Medicine, Great Ormond
[2]
Pierre and Marie Curie University, UM 76, INSERM U974, East-Paris Reference Center of Neuromuscular
[3]
Metabolic Unit, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne
[4]
Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[5]
Genetics and Metabolism, Children's National Medical Center, Washington, DC, United States
[6]
Department of Microbiology and Molecular Genetics, Faculty of Medicine, Hebrew University of
[7]
Biochemical Genetics Department, National Research Center, Cairo, Egypt
[8]
Paris-Sud University, CNRS-UMR8621, Genetics and Microbiology Institute, Orsay, France
[9]
Department of Child Neurology, Children's Hospital, Technical University Dresden, Dresden, Germany
[10]
East-Paris Reference Center of Neuromuscular Diseases, G.H.U. Pitié-Salpêtrière, AP-HP, Paris
[11]
Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia
[12]
Department of Neurology, University of New South Wales, Sydney Children's Hospital, Sydney
[13]
Department of Biochemistry, G.H.U. Saint-Antoine, Paris, France
[14]
Metabolic Clinic, Women's and Children's Hospital, Adelaide, Australia
[15]
Department of Biochemistry and Molecular Genetics, Cochin Hospital, Paris, France
[16]
Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem
[17]
Genetics Metabolic Diseases Service, Children's Hospital at Westmead, Sydney, Australia
[18]
Royal Children's Hospital, Herston, Australia
[19]
Paris Descartes University, INSERM U781 and Reference Center of Metabolic Diseases, Necker Hospital
[20]
Department of Medical Biochemistry, Rouen C.H.U., Rouen, France
[21]
发布时间
2013-11-20
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