Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

2.50
Hdl Handle:
http://hdl.handle.net/10029/621814
Title:
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Authors:
Stroek, Kevin; Bouva, Marelle J; Schielen, Peter C J I; Vaz, Frédéric M; Heijboer, Annemieke C; de Jonge, Robert; Boelen, Anita; Bosch, Annet M
Abstract:
Galactokinase (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.
Citation:
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. 2018 Mol. Genet. Metab.
Journal:
Mol Genet Metab 2018; 124(1):50-6
Issue Date:
21-Mar-2018
URI:
http://hdl.handle.net/10029/621814
DOI:
10.1016/j.ymgme.2018.03.008
PubMed ID:
29580649
Type:
Article
Language:
en
ISSN:
1096-7206
Appears in Collections:
Miscellaneous

Full metadata record

DC FieldValue Language
dc.contributor.authorStroek, Kevinen
dc.contributor.authorBouva, Marelle Jen
dc.contributor.authorSchielen, Peter C J Ien
dc.contributor.authorVaz, Frédéric Men
dc.contributor.authorHeijboer, Annemieke Cen
dc.contributor.authorde Jonge, Roberten
dc.contributor.authorBoelen, Anitaen
dc.contributor.authorBosch, Annet Men
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.en
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

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