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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

BMC medical genomics - 17 Mar 2021

Du Caiqi, Li Zhuoguang, Wei Hong, Zhang Min, Hu Minghui, Zhang Cai, Luo Xiaoping, Liang Yan

Abstract excerpt

BACKGROUND: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib). CASE PRESENTATION: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing,...

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Identifiers

PMID: 33731098
DOI: 10.1186/s12920-021-00936-9
PMCID: PMC7972195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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