Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
Autorzy:
van Vliet K; Beatrix Children's Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, CA33, PO box 30.001, 9700 RB, Groningen, Netherlands. van Ginkel WG; Beatrix Children's Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, CA33, PO box 30.001, 9700 RB, Groningen, Netherlands. JahjaR; Beatrix Children's Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, CA33, PO box 30.001, 9700 RB, Groningen, Netherlands. Daly A; Birmingham Children's Hospital, Birmingham, UK. MacDonald A; Birmingham Children's Hospital, Birmingham, UK. De Laet C; 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; Academic Medical Center, Amsterdam, Netherlands. Mumford N; The NIHR Great Ormond Street Hospital Biomedical Research Centre (BRC ), London, UK. Bierau J; Maastricht University Medical Center, Maastricht, Netherlands. van Hasselt PM; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Utrecht, Netherlands. Gissen P; The NIHR Great Ormond Street Hospital Biomedical Research Centre (BRC ), London, UK. Goyens PJ; Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium. McKiernan PJ; Birmingham Children's Hospital, Birmingham, UK. Wilcox G; School of Medical Sciences, Faculty of Biology Medicine & Health, University of Manchester, Manchester, UK.; The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Greater Manchester, M6 8HD, Salford, UK. Morris AAM; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK. Jameson EA; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK. Huijbregts SCJ; University of Leiden, Clinical Child and Adolescent Studies: Neurodevelopmental Disorders, Leiden, Netherlands. van Spronsen FJ; Beatrix Children's Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, CA33, PO box 30.001, 9700 RB, Groningen, Netherlands. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 04; Vol. 14 (1), pp. 285. Date of Electronic Publication: 2019 Dec 04.
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Autorzy:
JahjaR; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands. van Spronsen FJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands. . de Sonneville LMJ; Department of Clinical Child and Adolescent Studies & Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. van der Meere JJ; University of Groningen, Department of Developmental and Clinical Neuropsychology, Groningen, The Netherlands. Bosch AM; Academic Medical Center, Amsterdam, The Netherlands. Hollak CEM; Academic Medical Center, Amsterdam, The Netherlands. Rubio-Gozalbo ME; University Hospital Maastricht and Laboratory Genetic Metabolic Diseases, Maastricht, The Netherlands. Brouwers MCGJ; Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, University Hospital Maastricht, Maastricht, The Netherlands. Hofstede FC; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. de Vries MC; University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands. Janssen MCH; University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands. van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands. Langendonk JG; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands. Huijbregts SCJ; Department of Clinical Child and Adolescent Studies & Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands.; Department of Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, P.O. Box 9555, 2300 RB, Leiden, The Netherlands.
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Źródło:
Behavior genetics [Behav Genet] 2017 Sep; Vol. 47 (5), pp. 486-497. Date of Electronic Publication: 2017 Aug 03.
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
Autorzy:
van Ginkel WG; University of Groningen, Beatrix Children's Hospital, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands. JahjaR; University of Groningen, Beatrix Children's Hospital, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands. Huijbregts SC; University of Leiden, Leiden, The Netherlands. Daly A; Birmingham Children's Hospital, Birmingham, UK. MacDonald A; Birmingham Children's Hospital, Birmingham, UK. De Laet C; University Children's Hospital Queen Fabiola, Free University of Brussels, Brussels, Belgium. Cassiman D; University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium. Eyskens F; Queen Paola Children's Hospital, University of Antwerp, Antwerp, Belgium. Körver-Keularts IM; Maastricht University Medical Center, Maastricht, The Netherlands. Goyens PJ; University Children's Hospital Queen Fabiola, Free University of Brussels, Brussels, Belgium. McKiernan PJ; Birmingham Children's Hospital, Birmingham, UK. van Spronsen FJ; University of Groningen, Beatrix Children's Hospital, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Jun 29; Vol. 11 (1), pp. 87. Date of Electronic Publication: 2016 Jun 29.
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