Article
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Metabolic brain disease - 1 Aug 2016
Zhang Wen, Zeng Huasong, Huang Yonglan, Xie Ting, Zheng Jipeng, Zhao Xiaoyuan, Sheng Huiying, Liu Hongsheng, Liu Li
Abstract excerpt
Sandhoff disease (SD) is a rare autosomal recessive lysosomal storage disorder of sphingolipid metabolism resulting from the deficiency of β-hexosaminidase (HEX). Mutations of the HEXB gene cause Sandhoff disease. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis, biochemical investigation, and molecular mutational analysis in...
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