Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

Autor: Veldman, A, Kiewiet, MBG, Heiner-Fokkema, MR, Nelen, MR, Sinke, RJ, Dollé, MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::267c4db6f74371684690d484e9e360d3
http://hdl.handle.net/10029/625602

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside.

Autor: Gross-Valle C; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Jacobs TC; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Dijck-Brouwer JDA; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Lubberts J; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Bakker BM; Laboratory of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Bakker SJL; Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van der Veen Y; Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Schreuder AB; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van der Krogt J; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Groen J; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Oct 26. Date of Electronic Publication: 2024 Oct 26.

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Autor: Weerd JCV; Department of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Wegberg AMJV; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Boer TS; Department of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Engelke UFH; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Coene KLM; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Hematology, Máxima Medical Centre, 5504 DB Veldhoven, The Netherlands., Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bakker SJL; Division of Nephrology, Department of Internal Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Blaauw P; Department of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Groen J; Department of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Spronsen FJV; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

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Creatine homeostasis and the kidney: comparison between kidney transplant recipients and healthy controls.

Autor: Post A; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands. a.post01@umcg.nl., Groothof D; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands., Kremer D; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands., Knobbe TJ; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands., Abma W; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, the Netherlands., Koops CA; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, the Netherlands., Tsikas D; Institute of Toxicology, Core Unit Proteomics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany., Wallimann T; Department of Biology, ETH Zurich, Zurich, Switzerland., Dullaart RPF; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands., Franssen CFM; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands., Kema IP; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, the Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, the Netherlands., Bakker SJL; Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, The Netherlands.; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, Groningen, 9700 RB, the Netherlands.

Publikováno v: Amino acids [Amino Acids] 2024 Jun 13; Vol. 56 (1), pp. 42. Date of Electronic Publication: 2024 Jun 13.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Autor: Kiewiet G; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., de Boer EN; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., van Berkel E; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Hofste TGJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., van Zweeden M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Derks RC; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Leijsten NFA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Ruiterkamp-Versteeg MHA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Charbon B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Johansson L; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Bos-Kruizinga J; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Veenstra IJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Voorhoeve E; Centre for Health Protection, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Nelen M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Mar 07; Vol. 10 (1). Date of Electronic Publication: 2024 Mar 07.