First-trimester serum PAPP-A and f[beta]-hCG concentrations and other maternal characteristics to establish logistic regression-based predictive rules for adverse pregnancy outcome.

Autor: van Ravenswaaij R, Tesselaar-van der Goot M, de Wolf S, van Leeuwen-Spruijt M, Visser GH, Schielen PC

Publikováno v: Prenatal Diagnosis; Jan2011, Vol. 31 Issue 1, p50-57, 8p

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.

Autor: Huffnagel IC; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van de Beek MC; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Showers AL; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Klouwer FCC; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Dijkstra IME; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Schielen PC; Center for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., van Lenthe H; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Morrissey MA; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Engelen M; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Kemp S; Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: s.kemp@amc.uva.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2017 Dec; Vol. 122 (4), pp. 209-215. Date of Electronic Publication: 2017 Oct 28.

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

Autor: Welling L; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: lindsey.welling@amc.uva.nl., Boelen A; Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, The Netherlands. Electronic address: a.boelen@amc.uva.nl., Derks TG; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: t.g.j.derks@umcg.nl., Schielen PC; Centre for Infectious Diseases Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. Electronic address: peter.schielen@rivm.nl., de Vries M; Department of Pediatrics, University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands. Electronic address: Maaike.deVries@radboudumc.nl., Williams M; Department of Pediatrics, Erasmus MC-Sophia children's Hospital, Erasmus University Rotterdam, Rotterdam, The Netherlands. Electronic address: m.williams@erasmusmc.nl., Wijburg FA; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: f.a.wijburg@amc.uva.nl., Bosch AM; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.m.bosch@amc.uva.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2017 Mar; Vol. 120 (3), pp. 223-228. Date of Electronic Publication: 2016 Dec 29.

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

Autor: Kemper EA; Department of Clinical Chemistry, IJsselland Hospital, Prins Constantijnweg 2, 2906ZC, Capelle aan den IJssel, The Netherlands. ekemper@ysl.nl., Boelen A; Newborn Screening Laboratory Amsterdam, Academic Medical Center, Amsterdam, The Netherlands., Bosch AM; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands., van Veen-Sijne M; Newborn Screening Laboratory Amsterdam, Academic Medical Center, Amsterdam, The Netherlands., van Rijswijk CN; Department of Clinical Chemistry, IJsselland Hospital, Prins Constantijnweg 2, 2906ZC, Capelle aan den IJssel, The Netherlands., Bouva MJ; Centre for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., Fingerhut R; Swiss Newborn Screening Laboratory, Children's Research Center, Zurich, Switzerland., Schielen PC; Centre for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.

Publikováno v: JIMD reports [JIMD Rep] 2017; Vol. 32, pp. 1-6. Date of Electronic Publication: 2016 May 21.

Present to future: what the reasons for declining first-trimester combined testing tell us about accepting or declining cell-free DNA testing.

Autor: Crombag NM; Department of Obstetrics, University Medical Center Utrecht, Utrecht, The Netherlands., van Schendel RV; Department of Clinical Genetics, section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands., Schielen PC; Centre for Infectious Diseases Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands., Bensing JM; The Netherlands Institute for Health Services Research, Utrecht, The Netherlands.; Faculty of Social and Behavioural Sciences, Utrecht University, Utrecht, The Netherlands., Henneman L; Department of Clinical Genetics, section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2016 Jun; Vol. 36 (6), pp. 587-90. Date of Electronic Publication: 2016 May 10.