Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation.

作者信息

Kumar Pawan, Sharma Sudha

机构信息

Department of Pediatrics, Dr YS Parmar Govt Medical College, Nahan, Himachal Pradesh, India.

Department of Pediatric Neurology, Advanced Pediatrics Centre, PGIMER, Chandigarh, India.

出版信息

Indian J Pediatr. 2021 May;88(5):495-496. doi: 10.1007/s12098-021-03663-2. Epub 2021 Jan 14.

DOI:10.1007/s12098-021-03663-2

PMID:33447932

Abstract

摘要

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Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation.

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引用本文的文献

[1]

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Biochem Genet. 2025-8-7

[2]

GPD1 deficiency-a rare, overlooked cause of liver disease.

J Hum Genet. 2025-7

[3]

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.

BMC Med Genomics. 2025-1-23

[4]

Glycerol-3-Phosphate Dehydrogenase 1 Deficiency and Steatotic Liver Disease in Children: Our Cases and Review of Literature.

J Clin Exp Hepatol. 2025

[5]

A Novel cause of Massive Hepatosplenomegaly with Fibrosis in two children: Transient Infantile Hypertriglyceridemia.

J Clin Exp Hepatol. 2024

[6]

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene.

Front Genet. 2022-8-16

[7]

Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma.

BMJ Case Rep. 2022-4-1

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Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation.

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