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- Title
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
- Authors
Thurberg, Beth L; Rennke, Helmut; Colvin, Robert B; Dikman, Steven; Gordon, Ronald E; Collins, A Bernard; Desnick, Robert J; O'Callaghan, Michael
- Abstract
Fabry disease, a lysosomal storage disease caused by deficient lysosomal alpha-galactosidase A activity, is characterized by globotriaosylceramide (GL-3) accumulation in multiple cell types, particularly the vasculature, leading to end organ failure. Accumulation in the kidney is responsible for progressive decline in renal function in male patients with the classical phenotype, resulting in renal failure in their third to fifth decades of life. With the advent of recombinant protein synthesis technology, enzyme replacement therapy has become a viable alternative to dialysis or renal transplantation, previously the only available treatment options for end-stage renal disease.
- Publication
Kidney international, 2002, Vol 62, Issue 6, p1933
- ISSN
0085-2538
- Publication type
Journal Article
- DOI
10.1046/j.1523-1755.2002.00675.x