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  1. Article

    Open Access

    Challenges of palliative care in children with inborn metabolic diseases

    Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study ...

    Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier… in Orphanet Journal of Rare Diseases (2018)

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  2. 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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