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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet, Kimber; van Ginkel, Willem G; Jahja, Rianne; Daly, Anne; MacDonald, Anita; Santra, Saikat; De Laet, Corinne; Goyens, Philippe J; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Gissen, Paul; Bierau, Jörgen; van Hasselt, Peter M; Wilcox, Gisela; Morris, Andrew A M; Jameson, Elisabeth A; de la Parra, Alicia; Arias, Carolina; Garcia, Maria I; Cornejo, Veronica; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; Huijbregts, Stephan C J; van Spronsen, Francjan J.
Afiliación
  • van Vliet K; Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • van Ginkel WG; Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Jahja R; Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Daly A; Birmingham Children's Hospital, Birmingham, UK.
  • MacDonald A; Birmingham Children's Hospital, Birmingham, UK.
  • Santra S; Birmingham Children's Hospital, Birmingham, UK.
  • De Laet C; Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Goyens PJ; Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Vara R; Evelina London Children's Hospital, London, UK.
  • Rahman Y; Guy's and St. Thomas' Hospital, London, UK.
  • Cassiman D; University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium.
  • Eyskens F; Kon. Mathilde Moeder- en Kindcentrum, University Hospital of Antwerp, Antwerp, Belgium.
  • Timmer C; Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.
  • Mumford N; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
  • Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
  • Bierau J; Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Hasselt PM; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Wilcox G; School of Medical Sciences, Faculty of Biology Medicine & Health, University of Manchester, Manchester, UK.
  • Morris AAM; The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK.
  • Jameson EA; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • de la Parra A; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Arias C; Laboratory of Genetics and Metabolic Disease (LABGEM), Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
  • Garcia MI; Laboratory of Genetics and Metabolic Disease (LABGEM), Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
  • Cornejo V; Laboratory of Genetics and Metabolic Disease (LABGEM), Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
  • Bosch AM; Laboratory of Genetics and Metabolic Disease (LABGEM), Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
  • Hollak CEM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Rubio-Gozalbo ME; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC - Location AMC, Amsterdam, The Netherlands.
  • Brouwers MCGJ; Departments of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Hospital, Maastricht, The Netherlands.
  • Hofstede FC; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • de Vries MC; CARIM School for Cardiovascular Diseases, Maastricht University, Maastricht, The Netherlands.
  • Janssen MCH; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Ploeg AT; University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands.
  • Langendonk JG; University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands.
  • Huijbregts SCJ; Departments of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van Spronsen FJ; Department of Internal medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
J Inherit Metab Dis ; 45(5): 952-962, 2022 09.
Article en En | MEDLINE | ID: mdl-35722880

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenilcetonurias / Tirosinemias Límite: Child / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenilcetonurias / Tirosinemias Límite: Child / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article