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Tytuł :
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Autorzy :
Liemburg GB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Huijbregts SCJ; Department of Clinical Child and Adolescent Studies/Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. .
Rutsch F; Department of Pediatrics, Münster University, University Children's Hospital, Münster, Germany.
Feldmann R; Department of Pediatrics, Münster University, University Children's Hospital, Münster, Germany.
Jahja R; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Weglage J; Department of Pediatrics, Münster University, University Children's Hospital, Münster, Germany.
Och U; Department of Pediatrics, Münster University, University Children's Hospital, Münster, Germany.
Burgerhof JGM; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
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Źródło :
Pediatric research [Pediatr Res] 2021 Sep 08. Date of Electronic Publication: 2021 Sep 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
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. .
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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 :
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Autorzy :
Huijbregts SCJ; Department of Clinical Child and Adolescent Studies, Leiden University, Leiden, the Netherlands; Leiden Institute for Brain and Cognition, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: .
Bosch AM; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, the Netherlands.
Simons QA; Department of Clinical Child and Adolescent Studies, Leiden University, Leiden, the Netherlands.
Jahja R; Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Brouwers MCGJ; Maastricht University Medical Centre, Maastricht, the Netherlands.
De Sonneville LMJ; Department of Clinical Child and Adolescent Studies, Leiden University, Leiden, the Netherlands.
De Vries MC; Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Hofstede FC; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
Hollak CEM; Division of Endocrinology and Metabolism, Department of Internal Medicine, Academic Medical Center, Amsterdam, the Netherlands.
Janssen MCH; Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Langendonk JG; Erasmus Medical Center, Rotterdam, the Netherlands.
Rubio-Gozalbo ME; Maastricht University Medical Centre, Maastricht, the Netherlands.
Van der Meere JJ; Department of Developmental and Clinical Neuropsychology, University of Groningen, Groningen, the Netherlands.
Van der Ploeg AT; Erasmus Medical Center, Rotterdam, the Netherlands.
Van Spronsen FJ; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, the Netherlands.
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2018 Sep; Vol. 125 (1-2), pp. 96-103. Date of Electronic Publication: 2018 Jul 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biopterin/*analogs & derivatives
Cognition/*drug effects
Phenylalanine/*metabolism
Phenylketonurias/*drug therapy
Adolescent ; Adult ; Age Factors ; Biopterin/administration & dosage ; Child ; Diet ; Female ; Humans ; Male ; Phenylketonurias/epidemiology ; Phenylketonurias/metabolism ; Phenylketonurias/pathology ; Quality of Life ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Tytuł :
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Autorzy :
Jahja R; 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.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Executive Function/*physiology
Phenylketonurias/*complications
Adolescent ; Adult ; Child ; Cognition/physiology ; Female ; Follow-Up Studies ; Humans ; Male ; Mental Health ; Motor Activity/physiology ; Netherlands ; Neuropsychological Tests ; Phenylalanine/metabolism
Czasopismo naukowe
Tytuł :
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
Autorzy :
Jahja R; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen.
Huijbregts SCJ; Department of Clinical Child and Adolescent Studies, Leiden University.
de Sonneville LMJ; Department of Clinical Child and Adolescent Studies, Leiden University.
van der Meere JJ; Department of Developmental and Clinical Neuropsychology, University of Groningen.
Legemaat AM; Department of Developmental and Clinical Neuropsychology, University of Groningen.
Bosch AM; Academic Medical Center.
Hollak CEM; Academic Medical Center.
Rubio-Gozalbo ME; University Hospital Maastricht.
Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Diseases, University Hospital Maastricht.
Hofstede FC; Wilhelmina Children's Hospital, University Medical Center Utrecht.
de Vries MC; University Medical Center St. Radboud Nijmegen.
Janssen MCH; University Medical Center St. Radboud Nijmegen.
van der Ploeg AT; Erasmus Medical Center.
Langendonk JG; Erasmus Medical Center.
van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen.
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Źródło :
Neuropsychology [Neuropsychology] 2017 May; Vol. 31 (4), pp. 437-447. Date of Electronic Publication: 2017 Mar 20.
Typ publikacji :
Journal Article
MeSH Terms :
Cognition*
Mental Health*
Phenylketonurias/*psychology
Adolescent ; Adult ; Attention ; Biopterin/analogs & derivatives ; Biopterin/therapeutic use ; Depression/etiology ; Depression/psychology ; Executive Function ; Female ; Health Status ; Humans ; Inhibition, Psychological ; Intelligence Tests ; Male ; Memory, Short-Term ; Personality Disorders/etiology ; Personality Disorders/psychology ; Phenylalanine/blood ; Phenylketonurias/blood ; Phenylketonurias/drug therapy ; Self Report ; Young Adult
Czasopismo naukowe
Tytuł :
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.
Autorzy :
van Ginkel WG; Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center of Groningen, HPC CA33, Antwoordnummer 333, 9700 VB, Groningen, The Netherlands.
Jahja R; Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center of Groningen, HPC CA33, Antwoordnummer 333, 9700 VB, Groningen, The Netherlands.
Huijbregts SCJ; Department of Clinical Neuropsychology, University of Leiden, Leiden, The Netherlands.
van Spronsen FJ; Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center of Groningen, HPC CA33, Antwoordnummer 333, 9700 VB, Groningen, The Netherlands. .
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Źródło :
Advances in experimental medicine and biology [Adv Exp Med Biol] 2017; Vol. 959, pp. 111-122.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Nervous System Diseases/*etiology
Nervous System Diseases/*pathology
Tyrosinemias/*complications
Tyrosinemias/*pathology
Cyclohexanones/therapeutic use ; Humans ; Nervous System Diseases/drug therapy ; Nervous System Diseases/metabolism ; Nitrobenzoates/therapeutic use ; Phenylalanine/metabolism ; Tyrosine/metabolism ; Tyrosinemias/drug therapy ; Tyrosinemias/metabolism
Czasopismo naukowe
Tytuł :
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.
Jahja R; 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.
Typ publikacji :
Journal Article
MeSH Terms :
Tyrosinemias/*physiopathology
Adolescent ; Adult ; Child ; Cognition/physiology ; Female ; Humans ; Male ; Memory, Short-Term/physiology ; Neuropsychological Tests ; Young Adult
Czasopismo naukowe
Tytuł :
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.
Autorzy :
Jahja R; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Division of Metabolic Diseases CA33, PO Box 30.001, 9700 RB, Groningen, The Netherlands. .
van Spronsen FJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Division of Metabolic Diseases CA33, PO Box 30.001, 9700 RB, 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; Department of Developmental and Clinical Neuropsychology, University of Groningen, Groningen, The Netherlands.
Bosch AM; Academic Medical Center, Amsterdam, The Netherlands.
Hollak CEM; Academic Medical Center, Amsterdam, The Netherlands.
Rubio-Gozalbo ME; Laboratory Genetics Metabolic Diseases, University Hospital Maastricht, Maastricht, The Netherlands.
Brouwers MCGJ; Laboratory Genetics Metabolic Diseases, 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.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2016 May; Vol. 39 (3), pp. 355-362. Date of Electronic Publication: 2016 Feb 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cognition/*physiology
Phenylketonurias/*drug therapy
Phenylketonurias/*psychology
Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Neuropsychological Tests ; Phenylalanine/metabolism ; Phenylketonurias/metabolism ; Phenylketonurias/physiopathology ; Social Skills ; Young Adult
Czasopismo naukowe
Tytuł :
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.
Autorzy :
Aitkenhead L; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; UCL Institute of Neurology, London, UK.
Krishna G; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Ellerton C; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Moinuddin M; UCL Institute of Child Health, London, UK.; Faculty of Health, Social Care & Medicine, Edge Hill University, Ormskirk, UK.
Matcham J; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Shiel L; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Hossain S; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Kiffin M; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Foley J; UCL Institute of Neurology, London, UK.; Department of Neuropsychology, National Hospital of Neurology & Neurosurgery, London, UK.
Skeath R; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.
Cleary M; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.; Great Ormond Street Hospital NIHR Biomedical Research Centre, London, UK.
Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; UCL Institute of Neurology, London, UK.
Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; UCL Institute of Neurology, London, UK.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jun 18. Date of Electronic Publication: 2021 Jun 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Autorzy :
Liemburg GB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jahja R; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
de Sonneville LM; Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands.
van der Meere JJ; Department of Developmental and Clinical Neuropsychology, University of Groningen, Groningen, The Netherlands.
Bosch AM; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Hollak CE; Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
Brouwers MC; Department of Internal Medicine and Endocrinology, Maastricht University Medical Center, Maastricht, The Netherlands.
Hofstede FC; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
de Vries MC; Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Janssen MC; Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
van der Ploeg AT; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Langendonk JG; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Huijbregts SC; Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address: .
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2015 Mar; Vol. 114 (3), pp. 425-30. Date of Electronic Publication: 2014 Dec 12.
Typ publikacji :
Journal Article
MeSH Terms :
Executive Function*
Neuropsychological Tests*
Phenylketonurias/*psychology
Adult ; Female ; Humans ; Male ; Middle Aged ; Phenylalanine/blood ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.
Autorzy :
van Vliet D; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands; University of Groningen, Center of Behavior and Neurosciences, Department of Molecular Neurobiology, Groningen, The Netherlands.
Anjema K; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
Jahja R; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
de Groot MJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands; University of Groningen, Center of Behavior and Neurosciences, Department of Molecular Neurobiology, Groningen, The Netherlands.
Liemburg GB; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
Heiner-Fokkema MR; University of Groningen, University Medical Center Groningen, Department of Laboratory Medicine, Groningen, The Netherlands.
van der Zee EA; University of Groningen, Center of Behavior and Neurosciences, Department of Molecular Neurobiology, Groningen, The Netherlands.
Derks TG; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
Kema IP; University of Groningen, University Medical Center Groningen, Department of Laboratory Medicine, Groningen, The Netherlands.
van Spronsen FJ; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands. Electronic address: .
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2015 Jan; Vol. 114 (1), pp. 29-33. Date of Electronic Publication: 2014 Nov 15.
Typ publikacji :
Journal Article
MeSH Terms :
Biopterin/*analogs & derivatives
Brain/*metabolism
Dopamine/*metabolism
Phenylketonurias/*drug therapy
Phenylketonurias/*metabolism
Prolactin/*blood
Adolescent ; Adult ; Biopterin/therapeutic use ; Child ; Female ; Humans ; Male ; Phenylketonurias/blood ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Bebeklerde (3-6 ay) Periferik İntravenöz Kateterizasyon Uygulaması Sırasında Kullanılan Müzikli Dönencenin Ağrı Algısına Etkisi.
Autorzy :
AKAY, Nagihan
KUĞUOĞLU, Sema
EKİCİ, Behice
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Alternatywny tytuł :
The Effect of Musical Mobile on Pain Perception Used During Peripheral Intravenous Catheterization in Infants (3-6 Months).
Źródło :
Journal of Hacettepe University Faculty of Nursing. 2021, Vol. 8 Issue 1, p16-21. 6p.
Czasopismo naukowe
Tytuł :
Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.
Autorzy :
Jahja R; Division of Metabolic Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands. Electronic address: .
Huijbregts SC; Department of Clinical Child and Adolescent Studies; Leiden Institute for Brain and Cognition Leiden University, Leiden, The Netherlands.
de Sonneville LM; Department of Clinical Child and Adolescent Studies; Leiden Institute for Brain and Cognition Leiden University, Leiden, The Netherlands.
van der Meere JJ; Department of Developmental and Clinical Neuropsychology, University of Groningen, Groningen, The Netherlands.
van Spronsen FJ; Division of Metabolic Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands.
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Źródło :
The Journal of pediatrics [J Pediatr] 2014 Apr; Vol. 164 (4), pp. 895-899.e2. Date of Electronic Publication: 2014 Jan 30.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenylketonurias/*drug therapy
Phenylketonurias/*physiopathology
Adolescent ; Child ; Female ; Humans ; Male ; Neuropsychological Tests ; Phenylalanine/blood ; Phenylketonurias/blood ; Practice Guidelines as Topic ; Tyrosine/blood
Czasopismo naukowe
Tytuł :
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
Autorzy :
Jahja R; Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: .
Huijbregts SC
de Sonneville LM
van der Meere JJ
Bosch AM
Hollak CE
Rubio-Gozalbo ME
Brouwers MC
Hofstede FC
de Vries MC
Janssen MC
van der Ploeg AT
Langendonk JG
van Spronsen FJ
Pokaż więcej
Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2013; Vol. 110 Suppl, pp. S57-61. Date of Electronic Publication: 2013 Oct 22.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Mental Health*
Social Behavior*
Phenylalanine/*blood
Phenylketonurias/*psychology
Phenylketonurias/*therapy
Adolescent ; Adult ; Child ; Cognition ; Female ; Humans ; Male ; Netherlands ; Neuropsychological Tests ; Phenylketonurias/blood ; Young Adult
Czasopismo naukowe

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