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. Jahja R; 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. BierauJ; 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. f.j..
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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.
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
Autorzy:
Monostori P; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Klinke G; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Hauke J; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Richter S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. BierauJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. Garbade SF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Langhans CD; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Haas D; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Okun JG; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
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Źródło:
PloS one [PLoS One] 2019 Feb 28; Vol. 14 (2), pp. e0212458. Date of Electronic Publication: 2019 Feb 28 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Validation Study
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