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  1. No Access

    Article

    Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults

    Cerebrotendineous xanthomatosis (CTX) is an autosomal recessive disorder of bile acids synthesis. Patients may present with a variety of clinical manifestations: bilateral cataract and chronic diarrhea during ...

    Daniele Mandia, Annabelle Chaussenot, Gérard Besson, Foudil Lamari… in Journal of Neurology (2019)

  2. No Access

    Article

    High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

    Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three pl...

    Daniele Mandia, Marion Plaze, Isabelle Le Ber, Claire Ewenczyk… in Journal of Neurology (2020)