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[Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Zhu Haixia, Wu Wenlin, Chen Wenxiong, Zeng Yiru, Zhao Yuan, Wang Xiuying, Li Xiaojing

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a girl featuring epilepsy, developmental delay and regression. METHODS: Clinical data of the patient was collected. Activities of hexosaminidase A (Hex A) and hexosaminidase A&B (Hex A&B) in blood leukocytes were determined by using a fluorometric assay. Peripheral blood samples were collected from the proband and six members from her pedigree. Following extraction of...

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PMID: 36184097
DOI: 10.3760/cma.j.cn511374-20211022-00843

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