TITLE

Fabry's disease: An ultrastructural study of nerve biopsy

AUTHOR(S)
Gayathri, N.; Yasha, T. C.; Kanjalkar, Makarand; Agarwal, Santosh; Sagar, B. K. Chandrashekar; Santosh, Vani; Shankar, S. K.
PUB. DATE
July 2008
SOURCE
Annals of Indian Academy of Neurology;Jul2008, Vol. 11 Issue 3, p182
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.
ACCESSION #
34487122

 

Related Articles

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics