Associated Papers
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
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
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.
Dong Y et al.
Pediatric Research, 2021
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
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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