一名患有GPD1突变的婴儿出现短暂性婴儿高甘油三酯血症和肝脂肪变性 - Suppr

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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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Biochem Genet. 2025 Aug 7. doi: 10.1007/s10528-025-11209-w.

GPD1 deficiency-a rare, overlooked cause of liver disease.甘油-3-磷酸脱氢酶1缺乏症——一种罕见的、被忽视的肝病病因。

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