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[A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020

Cai Dan, Lu Chunyan, An Zhenmei, Tian Haoming, Zhang Yumei, Chen Tao

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a patient with glycogen accumulation type Ⅰa with gout as the main clinical feature. METHODS: Clinical data of the patient was collected. The patient and her parents were subjected to next generation sequencing (NGS). Suspected pathogenic variation was verified by Sanger sequencing. RESULTS: The patient, a 30-year-old women, mainly manifested hyperuricemia, chronic...

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Identifiers

PMID: 32924126
DOI: 10.3760/cma.j.cn511374-20190518-00249

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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