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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
document
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