Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.
Li XY et al.
Bmc Medical Genomics, 2025
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel GPD1 Mutation.
Tan Y et al.
Molecular Syndromology, 2022
Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene.
Wang J et al.
Frontiers in Genetics, 2022
Transient infantile hypertriglyceridemia with jaundice: A case report.
Wang J et al.
Medicine, 2021
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.
Matarazzo L et al.
Jimd Reports, 2020
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.
Li JQ et al.
Bmc Gastroenterology, 2018
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
Li N et al.
American Journal of Medical Genetics. Part A, 2017
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
Dionisi-Vici C et al.
Journal of Inherited Metabolic Disease, 2016
Glycerol-3-Phosphate Dehydrogenase 1 Deficiency and Steatotic Liver Disease in Children: Our Cases and Review of Literature.
Agrawal A et al.
Journal of Clinical and Experimental Hepatology, 0
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