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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter.
Affiliation
  • Posset R; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
  • Garbade SF; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
  • Boy N; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
  • Burlina AB; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy.
  • Dionisi-Vici C; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy.
  • Dobbelaere D; Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2 59037, Lille, France.
  • Garcia-Cazorla A; Hospital San Joan de Deu, Institut Pediàtric de Recerca, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
  • de Lonlay P; Service de Maladies Métaboliques, Hôpital Necker-Enfants Malades Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal.
  • Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, UK.
  • Mew NA; Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, District of Columbia 20010, USA.
  • Batshaw ML; Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, District of Columbia 20010, USA.
  • Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032 Zurich, Zurich, Switzerland.
  • McCandless SE; Section of Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado 13123 East 16th Avenue, B153, Aurora, Colorado, USA.
  • Seminara J; Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, District of Columbia 20010, USA.
  • Summar M; Rare Disease Institute, Children's National Health System 111 Michigan Avenue, NW, Washington, District of Columbia 20010, USA.
  • Hoffmann GF; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
  • Kölker S; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
  • Burgard P; Centre for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Inherited Metabolic Diseases, University Hospital Heidelberg, Im Neuenheimer Feld 430 69120, Heidelberg, Germany.
J Inherit Metab Dis ; 42(1): 93-106, 2019 01.
Article in En | MEDLINE | ID: mdl-30740724
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urea Cycle Disorders, Inborn Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: America do norte / Europa Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urea Cycle Disorders, Inborn Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: America do norte / Europa Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: Germany