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  1. Article

    Open Access

    Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

    Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin… in Orphanet Journal of Rare Diseases (2021)

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    Article

    Clinical benefit in Fabry patients given enzyme replacement therapy—A case series

    Summary: Fabry disease is a rare lysosomal storage disorder resulting from deficient activity of α-galactosidase A and subsequent pathological accumulation of glycosphingolipids throughout the bo...

    N. Guffon, A. Fouilhoux in Journal of Inherited Metabolic Disease (2004)