%0 Journal Article %A taghizadeh, hassan %A taghizadeh, eskandar %T A case report and review of sandhoff diseases in gachsaran city %J Razi Journal of Medical Sciences %V 24 %N 160 %U http://rjms.iums.ac.ir/article-1-4042-en.html %R %D 2017 %K sandhoff, hexose aminidase B, cherry red spot, %X 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. %> http://rjms.iums.ac.ir/article-1-4042-en.pdf %P 37-40 %& 37 %! A case report and review of sandhoff diseases in gachsaran city %9 case report %L A-10-2763-1 %+ Mashhad University of Medical Sciences, Mashhad, Iran %G eng %@ 2228-7043 %[ 2017