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  1. Article

    Open Access

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected ...

    Ewa Pronicka, Mariola Ropacka-Lesiak… in Journal of Inherited Metabolic Disease (2017)

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