Article
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.
Proceedings of the National Academy of Sciences of the United States of America - 25 May 1999
Ohshima T, Schiffmann R, Murray G J, Kopp J, Quirk J M, Stahl S, Chan C C, Zerfas P, Tao-Cheng J H, Ward J M, Brady R O, Kulkarni A B
Abstract excerpt
Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease....
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