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[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Zhang Dan, Xu Fang, Bao Yi, Xu Yanming

Abstract excerpt

OBJECTIVE: To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene. METHODS: A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to "intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year" was selected as the study...

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PMID: 39653353
DOI: 10.3760/cma.j.cn511374-20240927-00510

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