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dc.contributor.authorStroek, Kevin
dc.contributor.authorBouva, Marelle J
dc.contributor.authorSchielen, Peter C J I
dc.contributor.authorVaz, Frédéric M
dc.contributor.authorHeijboer, Annemieke C
dc.contributor.authorde Jonge, Robert
dc.contributor.authorBoelen, Anita
dc.contributor.authorBosch, Annet M
dc.date.accessioned2018-04-19T10:04:21Z
dc.date.available2018-04-19T10:04:21Z
dc.date.issued2018-03-21
dc.identifier.citationRecommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. 2018 Mol. Genet. Metab.en
dc.identifier.issn1096-7206
dc.identifier.pmid29580649
dc.identifier.doi10.1016/j.ymgme.2018.03.008
dc.identifier.urihttp://hdl.handle.net/10029/621814
dc.description.abstractGalactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands.
dc.language.isoenen
dc.rightsinfo:eu-repo/semantics/closedAccessen
dc.titleRecommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.en
dc.typeArticleen
dc.identifier.journalMol Genet Metab 2018; 124(1):50-6en
html.description.abstractGalactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands.


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