Article
Natural history of the respiratory involvement in Anderson-Fabry disease.
Journal of inherited metabolic disease - 1 Oct 2007
Magage S, Lubanda J-C, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain D P, Linhart A
Abstract excerpt
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow-up. The aim of this study was to compare spirometric changes...
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