{Reference Type}: Case Reports
{Title}: Fabry's disease: An ultrastructural study of nerve biopsy.
{Author}: Gayathri N;Yasha TC;Kanjalkar M;Agarwal S;Sagar BK;Santosh V;Shankar SK;
{Journal}: Ann Indian Acad Neurol
{Volume}: 11
{Issue}: 3
{Year}: Jul 2008
{Factor}: 1.714
{DOI}: 10.4103/0972-2327.42939
{Abstract}: Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A (alpha-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.