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  1. No Access

    Article

    Newborn screening for homocystinurias: recent recommendations versus current practice

    To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.

    R. Keller, P. Chrastina, M. Pavlíková, S. Gouveia… in Journal of Inherited Metabolic Disease (2018)

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    Chapter

    Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

    Background: Reports on cognitive outcomes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) are scarce. We present results from neuropsychological assessments of eight patients diagnosed with LCH...

    A. Strandqvist, C. Bieneck Haglind, R. H. Zetterström, A. Nemeth… in JIMD Reports, Volume 28 (2016)