Fabry′s disease

Fabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.

Bibliographic Details
Main Authors: Laxmikant Ramkumarsingh Tomar, Ajinkya Ashok Sonambekar, Sambav Gupta, Nikhil Gupta
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2015-01-01
Series:Medical Journal of Dr. D.Y. Patil University
Subjects:
Online Access:http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2015;volume=8;issue=6;spage=822;epage=825;aulast=Tomar