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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

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Title: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Authors: Kölker S; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de., Garcia-Cazorla A; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Valayannopoulos V; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Barić I; School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Augoustides-Savvopoulou P; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Aksglaede L; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Arnoux JB; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., I Saladelafont EC; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Dvorakova V; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Furlan F; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Laemmle A; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Martinelli D; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Peña-Quintana L; Hospital Universitario Materno-Infantil de Canarias, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Sokal E; Service Gastroentérologie and Hépatologie Pédiatrique, Cliniques Universitaires St Luc, Université Catholique de Louvain, Bruxelles, Belgium., Staufner C; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, UK., Pinera IV; Inborn Metabolic Disease Unit, Hospital Virgen de la Arrixaca de Murcia, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, Willink Biochemical Genetics Unit, Genetic Medicine, University of Manchester, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1041-57. Date of Electronic Publication: 2015 Apr 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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          Name:
            NameFull: Ortez C
      – PersonEntity:
          Name:
            NameFull: Peña-Quintana L
      – PersonEntity:
          Name:
            NameFull: Ramadža DP
      – PersonEntity:
          Name:
            NameFull: Rodrigues E
      – PersonEntity:
          Name:
            NameFull: Scholl-Bürgi S
      – PersonEntity:
          Name:
            NameFull: Sokal E
      – PersonEntity:
          Name:
            NameFull: Staufner C
      – PersonEntity:
          Name:
            NameFull: Summar ML
      – PersonEntity:
          Name:
            NameFull: Thompson N
      – PersonEntity:
          Name:
            NameFull: Vara R
      – PersonEntity:
          Name:
            NameFull: Pinera IV
      – PersonEntity:
          Name:
            NameFull: Walter JH
      – PersonEntity:
          Name:
            NameFull: Williams M
      – PersonEntity:
          Name:
            NameFull: Burgard P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: 2015 Nov
              Type: published
              Y: 2015
          Identifiers:
            – Type: issn-electronic
              Value: 1573-2665
          Numbering:
            – Type: volume
              Value: 38
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Journal of inherited metabolic disease
              Type: main
ResultId 1