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Article

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2014

Huang Yonglan, Xie Ting, Zheng Jipeng, Zhao Xiaoyuan, Liu Hongsheng, Liu Li

Abstract excerpt

OBJECTIVE: To explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease. METHOD: We retrospectively reviewed the clinical, neuroimaging and biochemical findings in this Chinese child with juvenile Sandhoff disease. Hexosaminidase A and hexosaminidase A & B activities were measured in blood leukocytes by fluorometric assay. HEXB gene molecular analysis was performed...

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Identifiers

PMID: 24915922

Genes

HEXB

Provenance

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