Department of Pediatrics and Adolescent Medicine General University Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

Department of Pediatrics Faculty of Medicine Masaryk University and University Hospital Brno Brno Czech Republic

Department of Pediatrics Thomayer Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

Institute of Pathology General University Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

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Joshi M, Eagan J, Desai NK, et al. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014;22:1229–32. DOI

Dionisi-Vici C, Shteyer E, Niceta M, et al. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency. J Inherit Metab Dis. 2016;39:689–95. DOI

Li N, Chang G, Xu Y, et al. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. Am J Med Genet A. 2017;173:3189–94. DOI

Li JQ, Xie XB, Feng JY, et al. A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report. BMC Gastroenterol. 2018;18:96. DOI