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Article

[A case of transient infantile hypertriglyceridemia caused by mutations in the glycerol-3-phosphate dehydrogenase 1 gene].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Oct 2021

Ma P F, Li W W, Chen L, Lu Y

Abstract excerpt

1例随访1年余的3-磷酸甘油脱氢酶（GPD1）基因突变致婴儿期短暂性高甘油三酯血症（HTGTI）患儿并复习文献，发现HTGTI婴儿期起病为主，临床以肝大、脂肪肝、高脂血症、轻度转氨酶异常为特征。且有长期甚至延续至成年的肝脏脂肪代谢异常、肝酶升高以及生长发育问题，故长期干预及远期预后值得临床医生关注。.

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Identifiers

PMID: 34814398
DOI: 10.3760/cma.j.cn501113-20210122-00040
PMCID: PMC12813823

Genes

GPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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