Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?
Sign Up to like & getrecommendations! Published in 2020 at "Scandinavian Journal of Gastroenterology"
DOI: 10.1080/00365521.2020.1790648
Abstract: Abstract Background and aims Low phospholipid-associated cholelithiasis syndrome (LPAC) is characterized by recurrent symptomatic cholelithiasis in young adults associated with ABCB4 gene mutations. Current diagnosing criteria are complex and heterogeneous, making this a largely underdiagnosed… read more here.
Keywords: symptomatic cholelithiasis; cholelithiasis; age; abcb4 gene ... See more keywords
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
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DOI: 10.1186/s13023-024-03179-w
Abstract: Background ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed the clinical and pathological characteristics of 23… read more here.
Keywords: gene related; cholestatic liver; abcb4 gene; related cholestatic ... See more keywords