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Article

Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?

Scandinavian journal of gastroenterology - 1 Aug 2020

Gouveia Catarina, Flor de Lima Margarida, Pereira Flávio, Rosa Bruno, Cotter José, Banhudo António, Duarte Maria, Ferreira Alexandre, Cravo Marília, Nunes Joana

Abstract excerpt

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 entity. Also, although recommended, genetic testing is not necessary for the diagnosis and its real advantages are not clear. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32650689
DOI: 10.1080/00365521.2020.1790648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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