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Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; Baric, Ivo; Baumgartner, Matthias R; Burgard, Peter; Burlina, Alberto B; Chapman, Kimberly A; I Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; Sykut-Cegielska, Jolanta; Walter, John H; Zeman, Jiri; Chabrol, Brigitte; Kölker, Stefan.
Afiliação
  • Heringer J; Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Valayannopoulos V; Assistance Publique-Hôpitaux de Paris, Centre de Référence de Maladies Métaboliques (MaMEA), Hôpital Universitaire Necker-Enfants Malades and Insitut MAGINE, Paris, France.
  • Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Wijburg FA; Department of Pediatrics, Academic Medical Center, Amsterdam, Netherlands.
  • Freisinger P; Klinikum am Steinenberg, Klinik für Kinder- und Jugendmedizin, Reutlingen, Germany.
  • Baric I; School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.
  • Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland.
  • Burgard P; Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy.
  • Chapman KA; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA.
  • I Saladelafont EC; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
  • Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Mühlhausen C; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
  • Riches V; Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Schiff M; Reference Center for Inborn Errors of Metabolism, APHP, University Paris-Diderot and INSERM U1141, Robert-Debré Hospital, Paris, France.
  • Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland.
  • Walter JH; Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
  • Zeman J; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic.
  • Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France.
  • Kölker S; Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de.
J Inherit Metab Dis ; 39(3): 341-353, 2016 05.
Article em En | MEDLINE | ID: mdl-26689403
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Encefalopatias Metabólicas Congênitas / Transtornos Congênitos do Transporte de Aminoácidos / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos / Doenças Metabólicas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Encefalopatias Metabólicas Congênitas / Transtornos Congênitos do Transporte de Aminoácidos / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos / Doenças Metabólicas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article