作者:
Tegtmeyer,L.C. [1]
;
Rust,S. [2]
;
VanScherpenzeel,M. [3]
;
Ng,B.G. [4]
;
Losfeld,M.-E. [5]
;
Timal,S. [6]
;
Raymond,K. [7]
;
He,P. [8]
;
Ichikawa,M. [9]
;
Veltman,J. [10]
;
Huijben,K. [11]
;
Shin,Y.S. [12]
;
Sharma,V. [13]
;
Adamowicz,M. [14]
;
Lammens,M. [15]
;
Reunert,J. [16]
;
Witten,A. [17]
;
Schrapers,E. [18]
;
Matthijs,G. [19]
;
Jaeken,J. [20]
;
Rymen,D. [21]
;
Stojkovic,T. [22]
;
Laforêt,P. [23]
;
Petit,F. [24]
;
Auma?tre,O. [25]
;
Czarnowska,E. [26]
;
Piraud,M. [27]
;
Podskarbi,T. [28]
;
Stanley,C.A. [29]
;
Matalon,R. [30]
;
Burda,P. [31]
;
Seyyedi,S. [32]
;
Debus,V. ;
Socha,P. ;
Sykut-Cegielska,J. ;
VanSpronsen,F. ;
DeMeirleir,L. ;
Vajro,P. ;
DeClue,T. ;
Ficicioglu,C. ;
Wada,Y. ;
Wevers,R.A. ;
Vanderschaeghe,D. ;
Callewaert,N. ;
Fingerhut,R. ;
VanSchaftingen,E. ;
Freeze,H.H. ;
Morava,E. ;
Lefeber,D.J. ;
Marquardt,T.
作者单位:
Department of Pediatric Cardiology, University Children's Hospital Münster, Münster, Germany
[1]
Department of Biochemistry and Microbiology, Ghent University, Ghent, Belgium, Unit for Medical
[2]
Division of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
[3]
Sanford-Burnham Medical Research Institute, San Diego, CA, United States
[4]
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Assistance
[5]
Leibniz-Institut für Arterioskleroseforschung, Münster, Germany
[6]
Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland
[7]
Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
[8]
Centre Hospitalier Universitaire (CHU) Gabriel Montpied, Service de Médecine Interne, Clermont
[9]
University of Brussels, Université Catholique de Louvain, Brussels, Belgium
[10]
University of Texas Medical Branch, Galveston, TX, United States
[11]
Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States
[12]
Department of Pediatrics, Hayward Genetics Center, Tulane University Medical School, New Orleans
[13]
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany
[14]
Department of Gastroenterology, Hepatology, and Immunology, Children's Memorial Health Institute
[15]
Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen
[16]
Department of Pathology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen
[17]
Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL
[18]
Department of Biochemistry and Experimental Medicine, Children's Memorial Health Institute, Warsaw
[19]
Department of Medicine and Surgery, Division of Pediatrics, University of Salerno, Baronissi, Italy
[20]
De Duve Institute, Université Catholique de Louvain, Brussels, Belgium
[21]
City Medical Center, Wiesbaden, Germany
[22]
Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University
[23]
Swiss Newborn Screening Laboratory, Children's Research Center, University Children's Hospital
[24]
Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich
[25]
Molecular Genetics and Metabolism Laboratory, Munich, Germany
[26]
CHU de Lyon, Service des Maladies Héréditaires du Métabolisme, Bron, France
[27]
Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland
[28]
Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, United States
[29]
University Hospital Gasthuisberg, Leuven, Belgium
[30]
H?pital Antoine Béclère, Laboratoire de Génétique, Moléculaire des Maladies Métaboliques, Clamart
[31]
Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University
[32]
发布时间
2014-04-05
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The New England journal of medicine
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