تقی زاده, اسکندر

[ 1 ] - گزارش یک مورد بیماری سندهوف در شهر گچساران و مروری بر این بیماری

Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.