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Dankert-Roelse, J.E. (author), Bouvs, M.J. (author), Jakobs, B.S. (author), Janssens, H.M. (author), de Winter-de Groot, K.M. (author), Schonbeck, Y. (author), Gille, J.J.P. (author), Gulmans, V.A.M. (author), Verschoof-Puite, R.K. (author), Schielen, P.C.J.I. (author), Verkerk, P.H. (author)
Background Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. Methods Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net....
article 2019
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van der Ploeg, C.P.B. (author), Blom, M. (author), Bredius, R.G.M. (author), van der Burg, M. (author), Schielen, P.C.J.I. (author), Verkerk, P.H. (author), van den Akker-van Marle, M.E. (author)
Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largely increases the chances of survival. As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the...
article 2019
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Zwaveling-Soonawala, N. (author), Trotsenburg, A.S. (author), Verkerk, P.H. (author)
Context. In central hypothyroidism (CeH) free thyroxine (FT4) concentrations are low while TSH concentrations may be low, normal or even slightly elevated due to reduced bioactivity. Congenital CeH (CCeH) may be isolated or part of multiple pituitary hormone deficiency (MPHD). Objective. To test our hypotheses that (1) TSH concentrations have a...
article 2018
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van Dommelen, P. (author), Verkerk, P.H. (author), van Straaten, H.L. (author)
Objective To gain insight into health and related costs associated with very preterm births, one needs accurate information about the prevalence of the disabling conditions, including neonatal hearing loss (NHL). Study design We assessed the prevalence of NHL by week of gestation and categories of birth weight in very preterm neonates. Results...
article 2015
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