Ontology highlight
ABSTRACT:
SUBMITTER: Aerts JM
PROVIDER: S-EPMC2268542 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Aerts Johannes M JM Groener Johanna E JE Kuiper Sijmen S Donker-Koopman Wilma E WE Strijland Anneke A Ottenhoff Roelof R van Roomen Cindy C Mirzaian Mina M Wijburg Frits A FA Linthorst Gabor E GE Vedder Anouk C AC Rombach Saskia M SM Cox-Brinkman Josanne J Somerharju Pentti P Boot Rolf G RG Hollak Carla E CE Brady Roscoe O RO Poorthuis Ben J BJ
Proceedings of the National Academy of Sciences of the United States of America 20080219 8
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to globotriaosylceramide accumulation in the endothelium. However, no direct correlation exists between lipid storage and clinical manifestations, and treatment of patients with recombinant enzymes does not reverse sever ...[more]