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

Autor: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiří, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, De Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzík, Tomáš, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, De Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, Garcia Cazorla, Angeles

Publikováno v: Journal of inherited metabolic disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1059-1074. Springer Netherlands
Journal of Inherited Metabolic Disease, 38(6), 1059-1074. Springer Netherlands

BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESU

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

Autor: 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., Cazorla AG; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1157-8.