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Impact of age at onset and newborn screening on outcome in organic acidurias
Authors:Jana Heringer  Vassili Valayannopoulos  Allan M. Lund  Frits A. Wijburg  Peter Freisinger  Ivo Barić  Matthias R. Baumgartner  Peter Burgard  Alberto B. Burlina  Kimberly A. Chapman  Elisenda Cortès i Saladelafont  Daniela Karall  Chris Mühlhausen  Victoria Riches  Manuel Schiff  Jolanta Sykut-Cegielska  John H. Walter  Jiri Zeman  Brigitte Chabrol  Stefan Kölker  additional individual contributors of the E-IMD consortium
Affiliation:1.Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases,University Children’s Hospital Heidelberg,Heidelberg,Germany;2.Assistance Publique-H?pitaux de Paris, Centre de Référence de Maladies Métaboliques (MaMEA),H?pital Universitaire Necker-Enfants Malades and Insitut MAGINE,Paris,France;3.Centre for Inherited Metabolic Diseases, Department of Clinical Genetics,Copenhagen University Hospital, Rigshospitalet,Copenhagen,Denmark;4.Department of Pediatrics,Academic Medical Center,Amsterdam,Netherlands;5.Klinikum am Steinenberg,Klinik für Kinder- und Jugendmedizin,Reutlingen,Germany;6.School of Medicine,University Hospital Center Zagreb and University of Zagreb,Zagreb,Croatia;7.Division of Metabolism and Children’s Research Centre,University Children’s Hospital Zurich,Zurich,Switzerland;8.U.O.C. Malattie Metaboliche Ereditarie,Azienda Ospedaliera di Padova,Padova,Italy;9.Children’s National Medical Center,Washington,USA;10.Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII,Barcelona,Spain;11.Clinic for Pediatrics I, Inherited Metabolic Disorders,Medical University of Innsbruck,Innsbruck,Austria;12.Klinik für Kinder- und Jugendmedizin,Universit?tsklinikum Hamburg-Eppendorf,Hamburg,Germany;13.Reference Center for Inborn Errors of Metabolism, APHP,University Paris-Diderot and INSERM U1141, Robert-Debré Hospital,Paris,France;14.Birmingham Children’s Hospital NHS Foundation Trust,Birmingham,UK;15.Screening Department,Institute of Mother and Child,Warsaw,Poland;16.Willink Biochemical Genetics Unit, Genetic Medicine,Manchester Academic Health Science Centre, University of Manchester,Manchester,UK;17.First Faculty of Medicine,Charles University and General University of Prague,Prague,Czech Republic;18.Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie,H?pital d’Enfants, CHU Timone,Marseilles,France
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