Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Autor: Stroek, Kevin, Bouva, Marelle J., Schielen, Peter C.J.I., Vaz, Frédéric M., Heijboer, Annemieke C., de Jonge, Robert, Boelen, Anita, Bosch, Annet M.

Publikováno v: In Molecular Genetics and Metabolism May 2018 124(1):50-56

Metformin-related colonic glucose uptake; potential role for increasing glucose disposal?—A retrospective analysis of 18F-FDG uptake in the colon on PET–CT

Autor: Bahler, Lonneke, Stroek, Kevin, Hoekstra, Joost B., Verberne, Hein J., Holleman, Frits

Publikováno v: In Diabetes Research and Clinical Practice April 2016 114:55-63

Optimization of established and assessment of novel newborn screening strategies in the Netherlands

Autor: Stroek, Kevin

Newborn screening (NBS) is an important method for prevention of long-term health consequences or premature death in newborns with inherited disorders. A challenge in NBS is to find a balance between disease detection and false-positive referrals by

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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Autor: Stroek K; Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Boelen A; Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands., Bouva MJ; Reference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The Netherlands., De Sain-van der Velden M; Section Metabolic Diagnostics, Department of Genetics University Medical Center Utrecht Utrecht The Netherlands., Schielen PCJI; Reference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The Netherlands., Maase R; Reference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The Netherlands., Engel H; Department of Clinical Chemistry Isala Hospital Zwolle The Netherlands., Jakobs B; Department of Clinical Chemistry Elisabeth-Tweesteden Hospital Tilburg The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center Nijmegen The Netherlands., Mulder MF; Department of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands., van Spronsen FJ; Division of Metabolic Disorders, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The Netherlands., Visser G; Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands., de Vries MC; Department of Pediatrics, Division of Metabolic Disorders Radboud University Medical Center Nijmegen The Netherlands., Williams M; Center for Lysosomal and Metabolic diseases, Department of Pediatrics Erasmus Medical Center Rotterdam The Netherlands., Heijboer AC; Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands., Kemper EA; Department of Clinical Chemistry IJsselland Hospital Capelle aan den IJssel The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.

Publikováno v: JIMD reports [JIMD Rep] 2020 May 13; Vol. 54 (1), pp. 68-78. Date of Electronic Publication: 2020 May 13 (Print Publication: 2020).