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

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    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
    Type
    Article
    Language
    en
    
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    Title
    Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
    Published in
    Mol Genet Metab 2018; 124(1):50-6
    Publiekssamenvatting
    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.
    DOI
    10.1016/j.ymgme.2018.03.008
    PMID
    29580649
    URI
    http://hdl.handle.net/10029/621814
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.ymgme.2018.03.008
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