TY - JOUR T1 - A case report and review of sandhoff diseases in gachsaran city TT - گزارش یک مورد بیماری سندهوف در شهر گچساران و مروری بر این بیماری JF - RJMS JO - RJMS VL - 24 IS - 160 UR - http://rjms.iums.ac.ir/article-1-4042-en.html Y1 - 2017 SP - 37 EP - 40 KW - sandhoff KW - hexose aminidase B KW - cherry red spot N2 - 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. M3 ER -