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  1. Article

    Open Access

    Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

    Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological pro...

    Emilia Cirillo, Agata Polizzi, Annarosa Soresina… in Journal of Clinical Immunology (2022)

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  2. Article

    Open Access

    Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review

    Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intrav...

    Raffaele Falsaperla, Laura Sciuto, Luisa La Spina, Sarah Sciuto… in Metabolic Brain Disease (2021)

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