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Multiple phenotypes in phosphoglucomutase 1 deficiency

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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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