Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Autor: Vernooij-van Langen, A.M., Loeber, J.G., Elvers, B., Triepels, R.H., Gille, J.J.P., Ploeg, C.P. van der, Reijntjens, S., Dompeling, E., Dankert-Roelse, J.E., Yntema, J.L.

Publikováno v: Thorax, 4, 67, 289-295
Thorax, 67, 289-95
Thorax, 67(4), 289-295. BMJ Publishing Group
Vernooij-van Langen, A M M, Loeber, J G, Elvers, B, Triepels, R H, Gille, J J P, van der Ploeg, C P B, Reijntjens, S, Dompeling, E & Dankert-Roelse, J E 2012, ' Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study ', Thorax, vol. 67, no. 4, pp. 289-295 . https://doi.org/10.1136/thoraxjnl-2011-200730
Thorax, 67, 4, pp. 289-95

Item does not contain fulltext CONTEXT: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::439c4463ec6920f15ea903a297c7d4a2
https://doi.org/10.1136/thoraxjnl-2011-200730

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Autor: Triepels, R.H., Heuvel, L.P.W.J. van den, Loeffen, J.L.C.M., Buskens, C.A.F., Smeets, R.J.P., Rubio Gozalbo, M.E., Budde, M.S., Mariman, E.C.M., Wijburg, F.A., Barth, P.G., Trijbels, J.M.F., Smeitink, J.A.M.

Publikováno v: Annals of Neurology, 45, pp. 787-790
Annals of Neurology, 45, 787-790

Item does not contain fulltext 4 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29f90b7981b49d80193857ae6785af4d
https://hdl.handle.net/2066/186082

Genetic and biochemical aspects of human complex I deficiency

Autor: Triepels, R.H.

Contains fulltext : 146813.pdf (Publisher’s version ) (Open Access) 141 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0d7cb2bf0c5df54b5d58d45d01fed663
http://hdl.handle.net/2066/146813

Cystic fibrosis Heelprick among a newbOrn Population in the Netherlands: the CHOPIN-study

Autor: Vernooij-van Langen, A.M., Loeber, J.G., Elvers, L.H., Triepels, R.H., Gille, J.J., van der Ploeg, C.P., Reijntjens, S., Dompeling, E., Dankert-Roelse, J.E.

Publikováno v: In Journal of Cystic Fibrosis 2009 8 Supplement 2:S9-S9

cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed

Autor: Loeffen, J.L.C.M., Triepels, R.H., van den Heuvel, L.P., Schuelke, M., Buskens, C.A.F., Smeets, R.J.P., Trijbels, J.M.F., Smeitink, J.A.M.

Publikováno v: Biochemical and Biophysical Research Communications; December 1998, Vol. 253 Issue: 2 p415-422, 8p