References
Basel-Vanagaite L, Zevit N, Har Zahav A, et al. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet. 2012;90:49–60.
Tesarova M, Stranecky V, Konecna P, et al. GPD1 deficiency – underdiagnosed cause of liver disease. Indian J Pediatr. 2021;88(1):80–1.
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.
Joshi M, Eagan J, Desai NK, et al. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014;22:1229–3.
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.
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All the investigations were done for diagnostic purpose as a part of routine investigation of the patient. There was no ethical violation in this paper. The identity of the patient was kept in secret.
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Kumar, P., Sharma, S. Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation. Indian J Pediatr 88, 495–496 (2021). https://doi.org/10.1007/s12098-021-03663-2
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DOI: https://doi.org/10.1007/s12098-021-03663-2