Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation
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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
Transient infantile lingual leukoplakia: An underrecognized cause of white tongues in infancy
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DOI: 10.1111/pde.15576
Abstract: We have observed a distinct phenomenon of transient oral lingual leukoplakia in infancy and report 22 healthy infants with gray–white plaques on the dorsal tongue with sparing of the tip from four medical centers in… read more here.
Keywords: transient infantile; infantile lingual; lingual leukoplakia; leukoplakia ... See more keywords
Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene
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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