The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

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Title: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Authors: Kölker S; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de., 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., Burlina AB; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, 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; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Barić I; School of Medicine University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., 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, 8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Boy SP; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Rasmussen MB; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., 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., Cortès I Saladelafont E; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, 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., Furlan F; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., González MJ; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., 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., Honzik T; First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic., Hörster F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Ioannou H; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., 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, 8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., 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; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany., Murphy E; National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, UK., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Pedrón CC; Department of Pediatrics, Metabolic Diseases Unit, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Pintos-Morell G; Department of Pediatrics, Hospital Universitari Germans Trias I Pujol, Badalona, Spain., Pena-Quintana L; University Hospital Center Zagreb, Zagreb, Croatia., 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; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Sokal E; Cliniques Universitaires St Luc, Université Catholique de Louvain, Service Gastroentérologie and Hépatologie Pédiatrique, Bruxelles, Belgium., 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, United Kingdom., Pinera IV; Hospital Virgen de la Arrixaca de Murcia, Inborn Metabolic Disease Unit, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, University of Manchester, Willink Biochemical Genetics Unit, Genetic Medicine, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Garcia-Cazorla A; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1059-74. 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
Description
ISSN:1573-2665
DOI:10.1007/s10545-015-9840-x