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
GPD1 deficiency-a rare, overlooked cause of liver disease.
Türk NE et al.
Journal of Human Genetics, 2025
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.
Tesarova M et al.
Indian Journal of Pediatrics, 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
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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