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The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; Coelho, A I; Cassiman, D; Couce, M L; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, M T; Grunewald, S; Häberle, J; Hochuli, M; Hubert, A; Huidekoper, H H; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, Y E; Langendonk, J G; Möslinger, D; Müller-Wieland, D; Murphy, E; Õunap, K; Ramadza, D; Rivera, I A; Scholl-Buergi, S; Stepien, K M; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, R; de Vries, M; Waisbren, S E; Welsink-Karssies, M M; Wortmann, S B; Gautschi, M; Treacy, E P; Berry, G T.
Affiliation
  • Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands. estela.rubio@mumc.nl.
  • Haskovic M; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
  • Bosch AM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.
  • Burnyte B; Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, Vilnius, Lithuania.
  • Coelho AI; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
  • Cassiman D; Metabolic Center, Department of Gastroenterology-Hepatology, Leuven University Hospitals and KU Leuven, Leuven, Belgium.
  • Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
  • Dawson C; Department of Endocrinology, Queen Elizabeth Hospital Birmingham, London, UK.
  • Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Derks T; Section of Metabolic Diseases, Beatrix Children's Hospital, and Groningen University Institute for Drug Exploration (GUIDE), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Eyskens F; Antwerp University Hospital, Antwerp, Belgium.
  • Forga MT; Hospital Clinic Barcelona, Barcelona, Spain.
  • Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute for Child Health UCL, London, UK.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  • Hochuli M; Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.
  • Hubert A; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.
  • Huidekoper HH; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France.
  • Janeiro P; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
  • Kotzka J; Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal.
  • Knerr I; Institute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.
  • Labrune P; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Temple Street, Dublin, Ireland.
  • Landau YE; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.
  • Langendonk JG; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France.
  • Möslinger D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Müller-Wieland D; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Murphy E; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria.
  • Õunap K; Clinical Research Center, Department of Medicine I, University Hospital RWTH Aachen, Aachen, Germany.
  • Ramadza D; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Rivera IA; Department of Clinical Genetics, United Laboratories and Institute of Clinical Medicine, Tartu University Hospital, Tartu, Estonia.
  • Scholl-Buergi S; Department of Pediatrics, University Hospital Centre, Zagreb, Croatia.
  • Stepien KM; Research Institute for Medicines (iMed.ULisboa), and Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.
  • Thijs A; Universitätsklink für Pädiatrie, Tirol Kliniken GmbH, Innsbruck, Austria.
  • Tran C; Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK.
  • Vara R; Vrije Universiteit Amsterdam, Internal Medicine, Amsterdam UMC, Amsterdam, Netherlands.
  • Visser G; Center for Molecular Diseases, Division of Genetic Medicine, University Hospital Lausanne, Lausanne, Switzerland.
  • Vos R; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
  • de Vries M; Department of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Waisbren SE; Department of Methodology and Statistics, CAPHRI School for Primary Care and Public Health, Faculty Health Medicine and Life Sciences, Maastricht, The Netherlands.
  • Welsink-Karssies MM; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wortmann SB; Department of Pediatrics, Division of Genomics and Genetics, Harvard Medical School and Boston Children's Hospital, Boston, USA.
  • Gautschi M; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.
  • Treacy EP; University Children's Hospital, Parcelsus Medical University (PMU), Salzburg, Austria.
  • Berry GT; Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.
Orphanet J Rare Dis ; 14(1): 86, 2019 04 27.
Article in En | MEDLINE | ID: mdl-31029175
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: UTP-Hexose-1-Phosphate Uridylyltransferase / Galactosemias Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male / Newborn Language: En Journal: Orphanet J Rare Dis Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: UTP-Hexose-1-Phosphate Uridylyltransferase / Galactosemias Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male / Newborn Language: En Journal: Orphanet J Rare Dis Year: 2019 Document type: Article