Dietary practices in isovaleric acidemia: A European survey

Molecular Genetics and Metabolism Reports

C. Timmer¹  H. Champion²  A. Terry³  S. Evans⁴  A. Pinto⁴  A. Daly⁴  A. MacDonald⁴  H. Rogozinski⁵  D. Webster⁶  C. Jankowski⁶  C. Jouault⁷  A. de Meyer⁸  I. Jones⁸  F. Eyskens⁸  F.J. White⁹  C. Laguerre^1,10  I. Saruggia^1,11  S. Dubois^1,12  S. Le Verge^1,12  M. Assoun^1,12  C. Vasconcelos^1,13  J.C. Rocha^1,14  M.F. Almeida^1,14  K. Kaalund-Hansen^1,15  G. Gallo^1,16  S. Bernabei^1,16  E. Sjoqvist^1,17  U. Meyer^1,18  A. Schlune^1,19  I. Fasan^2,20  K. Dokoupil^2,21  N. Horst^2,22  D. Mayr^2,23  A. Micciche^2,24  H. Chan^2,24  J. Gribben^2,24  M. Dixon^2,25  G.E. Kahrs^2,26  A. Faria^2,27  C. Rohde^2,28  M. Robert^2,29  C. de Laet^2,29  A. Kowalik^3,30  L. van der Ploeg^3,31  D. Cassiman^3,32  K. Vande Kerckhove^3,32  A. Fekete^3,33  H. Vestergaard^3,34  A. Tooke^3,35  C. Gingell^3,35  L.H. Stolen^3,36  R. Lilje^3,36  A. Dianin^3,37  H. Zweers^3,38  R. Janssen-Regelink^3,38  A. van Wegberg^3,38  E. Favre^3,39  F. Feillet^3,39  K. Ross^4,40  L. White^4,41  A. Belanger-Quintana^4,42  J. Dalmau^4,43  I. Vitoria^4,43  C. Maddalon^4,44  A. van Teeffelen-Heithoff^4,45  A. Desloovere^4,46  M. van Driessche^4,46  S. Bollhalder^4,47  K. Singleton^4,48  L. Tomlinson^4,49  M. van Rijn^5,50  F. de Boer^5,50  E. van Dam^5,50  T. van den Hurk^5,51  I.L. Kok^5,51 

[1] Academisch Medisch Centrum, Amsterdam, Netherlands;Addenbrooke's Hospital, Cambridge, UK;Alder Hey Children's Hospital NHS Foundation Trust Liverpool, UK;Birmingham Children's Hospital, Birmingham, UK;Bradford Teaching Hospital NHS Foundation Trust, UK;Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK;CHU Angers, France;Center of Metabolic Diseases, University Hospital, Antwerp, Belgium;Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK;Centre de Compétence de L'Hôpital des Enfants de Toulouse, France;Centre de Reference des Maladies Héréditaires du Métabolisme du Pr. B. Chabrol CHU Timone Enfant, Marseille, France;Centre de référence des maladies héréditaires du métabolisme, hôpital Necker enfants Malades, Paris;Centro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, Portugal;Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal;Charles Dent Metabolic Unit National Hospital for Neurology and Surgery, London, UK;Children's Hospital Bambino Gesù, Division of Metabolism, Rome, Italy;Children's Hospital, University Hospital, Lund, Sweden;Clinic of Paediatric Kidney, Liver and Metabolic Diseases, Medical School Hannover, Germany;Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany;Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, Italy;Dr. von Hauner Children's Hospital, Munich, Germany;Emma Children's Hospital, AMC Amsterdam, Netherlands;Ernährungsmedizinische Beratung, Universitätsklinik für Kinder- und Jugendheilkunde, Salzburg, Austria;Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK;Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK;Haukeland University Hospital, Bergen, Norway;Hospital Pediatrico, Centro Hospitalar e Universitário de Coimbra, EPE, Portugal;Hospital of Children's & Adolescents, University of Leipzig, Germany;Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium;Institute of Mother & Child, Warsaw, Poland;Maastricht University Medical Centre + (MUMC+), Netherlands;Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium;Metabolic Centre of Vienna, Austria;National University Hospital, Copenhagen, Denmark;Nottingham University Hospitals, UK;Oslo University Hospital, Norway;Pediatric Department, University Hospital of Borgo Roma Verona, Italy;Radboud University Medical Center Nijmegen, The Netherlands;Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France;Royal Aberdeen Children's Hospital, Scotland;Sheffield Children's Hospital, UK;Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Spain;Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain;University Children's Hospital Zurich, Switzerland;University Children's Hospital, Munster, Germany;University Hospital Ghent, Belgium;University Hospital Zurich, Switzerland;University Hospital of Wales, Cardiff, UK;University Hospitals Birmingham NHS Foundation Trust, UK;University of Groningen, University Medical Center Groningen, Netherlands;Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands;

关键词: Isovaleric acidemia;    Protein restricted diet;    Leucine;    Leucine free l-amino acids;    Natural protein;   

DOI  :  10.1016/j.ymgmr.2017.02.001

来源: DOAJ

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