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Article

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene

16 Aug 2022

Abstract excerpt

Objective: Our study aims to summarize and analyze the clinical characteristics of transient infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene and the effect of HTGTI on the protein structure of GPD1. Methods: Retrospective analysis, using the general data, symptoms, signs, and auxiliary examinations, was performed on patients with HTGTI, which were...

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PMID: 36051699
DOI: 10.3389/fgene.2022.916672

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