Article
Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.
BMC pediatrics - 8 Oct 2021
Huang Yizhou, Dai Han, Yang Gangyi, Zhang Lili, Xue Shiyao, Zhu Min
Abstract excerpt
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG. The aim of this study is to report the clinical manifestations and gene-phenotype characteristics of a rare case of CDG caused by a COG1 gene mutation and review literatures of CDG disease. CASE PRESENTATION: The patient was male,...
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