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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

    Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

    Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and e...

    Mathilde Renaud, Claire Guissart, Martial Mallaret… in Journal of Neurology (2016)