ArticleTranslational pediatrics2021
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis ofInternational journal of neonatal screening · 2026Article
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.Human mutation · 2025Article
- Citrin deficiency-The East-side story.Journal of inherited metabolic disease · 2024Review
- Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.Journal of inherited metabolic disease · 2024Review
- Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.Frontiers in public health · 2024Article
- Citrin Deficiency: Clinical and Nutritional Features.Nutrients · 2023Review
- Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.Frontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCitrin deficiency (CD) is an autosomal recessive disease resulting from biallelic mutations of the
methodsA total of 3,409 peripheral blood samples from Guangdong and 2,746 such samples from Shaanxi province were collected. Four prevalent
resultsThe mutations were detected in 68 out of 6,818
conclusionsOur findings depicted the CD molecular epidemiological features in Guangdong and Shaanxi populations, providing preliminary but significant laboratory evidences for the subsequent CD diagnosis and management in the 2 provinces of mainland China.
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