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.