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Wyszukujesz frazę ""Bierau J"" wg kryterium: Autor


Tytuł:
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.
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. 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.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cyclohexanones/*therapeutic use
Nitrobenzoates/*therapeutic use
Tyrosinemias/*blood
Tyrosinemias/*drug therapy
Adolescent ; Adult ; Child ; Humans ; Male ; Phenylalanine/blood ; Quality of Life ; Tyrosine/blood ; Young Adult
Czasopismo naukowe
Tytuł:
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.
Bierau J; 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
MeSH Terms:
Chromatography, Liquid/*methods
Purine-Pyrimidine Metabolism, Inborn Errors/*diagnosis
Purine-Pyrimidine Metabolism, Inborn Errors/*urine
Tandem Mass Spectrometry/*methods
Adenine/analogs & derivatives ; Adenine/urine ; Adolescent ; Adult ; Aminoimidazole Carboxamide/analogs & derivatives ; Aminoimidazole Carboxamide/urine ; Biomarkers/urine ; Child ; Child, Preschool ; Chromatography, Liquid/standards ; Chromatography, Liquid/statistics & numerical data ; Female ; Humans ; Infant ; Male ; Quality Control ; Reference Values ; Ribonucleotides/urine ; Tandem Mass Spectrometry/standards ; Tandem Mass Spectrometry/statistics & numerical data ; Urea/analogs & derivatives ; Urea/urine ; Uridine/analogs & derivatives ; Uridine/urine
Czasopismo naukowe

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