ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2020
[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].
Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Roles of nucleotide metabolism in pancreatic cancer.Frontiers in immunology · 2025Review
- Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.Frontiers in cardiovascular medicine · 2021Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 likely pathogenic respectively, by a variety of bioinformatics tools and the ACMG standard. Therefore, the boy was confirmed to have DGUOK-related mitochondrial DNA depletion syndrome. Literature review showed that onset of liver disease in infancy was the main clinical feature of this disease, and some children presented with nervous system manifestations. Abnormal laboratory results included abnormal liver function, increases in blood lactate, serum ferritin and alpha-fetoprotein, and hypoglycemia. Such children had marked heterogeneity of DGUOK gene mutations, with missense mutations as the most common type. This disease tended to have a poor prognosis, and 79.6% of the children died before the age of 3 years.
Indexed as
Identifiers
32204766PMC7389589W3012834922What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.