ArticleAnnals of laboratory medicine2025
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic
Article in Annals of laboratory medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- High-Resolution Eight-Digit Human Leukocyte Antigen-A, -B, -C, and -DRB1 Allele and Haplotype Frequencies in South Koreans Using Next-Generation Sequencing.Annals of laboratory medicine · 2026Article
- From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026Review
- Reinterpreting National Whole-genome Sequencing Data: Lessons from the First Korean Pilot Study.Annals of laboratory medicine · 2026Article
- Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.Jornal de pediatriaArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: : Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in Methods: : We comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic Results: : Twenty-three pathogenic Conclusions: : The high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.
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