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  1. 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)

  2. 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)