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    The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease

    Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder secondary to deficient α-galactosidase A activity which leads to the widespread accumulation of globotriaosylceramide (Gb3) and related gl...

    R. J. Kalliokoski, I. Kantola, K. K. Kalliokoski… in Journal of Inherited Metabolic Disease (2006)