Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Pediatrics"
DOI: 10.1007/s12098-021-03663-2
Abstract: To the Editor: Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder [1]. Till date, 27 patients with this disorder have been described with homozygous or compound heterozygous mutations in glycerol-3-phosphate dehydrogenase-1 (GPD1) [2]. To… read more here.
Keywords: hypertriglyceridemia; infantile hypertriglyceridemia; transient infantile; gpd1 ... See more keywords
Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.916672
Abstract: 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… read more here.
Keywords: gpd1 gene; transient infantile; level; infantile hypertriglyceridemia ... See more keywords