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    Chapter

    Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation

    Zellweger syndrome disorders (ZSD) is the principal group of peroxisomal disorders characterized by a defect of peroxisome biogenesis due to mutations in one of the 13 PEX genes. The clinical spectrum is very lar...

    David Cheillan in Peroxisome Biology: Experimental Models, P… (2020)

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    Article

    Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

    Severe combined immunodeficiency (SCID) is characterized by a major T cell deficiency. Infants with SCID are asymptomatic at birth but die from infections in the first year of life if not treated. Survival rat...

    Marie A. P. Audrain, Alexandra J. C. Léger… in Journal of Clinical Immunology (2018)