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Article

[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Mar 2020

Lin Gui-Zhi, Qiu Jian-Wu, Deng Mei, Lin Wei-Xia, Guo Li, Song Yuan-Zong

Abstract excerpt

A boy, aged 4 months, had the major clinical manifestations of prolonged jaundice and hepatomegaly. Multiple biochemical tests revealed abnormal liver function along with elevated alpha-fetoprotein and lactate. Genetic analysis confirmed that the boy had the mutations of c.589C>T(p.Gln197Ter) and c.687G>C(p.Trp229Cys) in the DGUOK gene, both of which were novel mutations and were determined to be pathogenic and...

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Identifiers

PMID: 32204766
PMCID: PMC7389589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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