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Article

[Clinical features and genetic analysis of seven patients with congenital hyperinsulinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Zhang Yanan, Pi Yalei, Yan Xue, Li Yuqian, Qi Zhanjiang, Zhang Huifeng

Abstract excerpt

OBJECTIVE: To analyze clinical characteristics, genetic mutation and therapeutic effect of seven patients diagnosed with congenital hyperinsulinism(CHI). METHODS: Clinical data for the patients was retrospectively analyzed. RESULTS: All patients presented with hyperinsulinism(serum insulin:2.0-58.4 mU/L),even after hypoglycemia (blood glucose: 0.7-2.39 mmol/L) has developed. Mutations were identified in 4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30098243
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.009

Genes

ABCC8
GLUD1
UCP2

Variants

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