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Article

Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.

Journal of pediatric gastroenterology and nutrition - 1 May 2021

Porta Gilda, Rigo Paula S M, Porta Adriana, Pugliese Renata P S, Danesi Vera L B, Oliveira Eliene, Borges Cristian C V, Ribeiro Cristiane, Miura Irene K

Abstract excerpt

ABSTRACT: A case of low-γ-glutamyltranspetidase cholestasis associated with ubiquitin-specific peptidase 53 (USP53) gene mutation in a Brazilian child is described. Transient jaundice and hypocholia started at the age of 10 days. Liver enzymes, total bilirubin, and total bile acids were elevated at presentation. During follow-up, he developed cholelithiasis treated with cholecystectomy, and an intracranial...

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Source

Identifiers

PMID: 33661244
DOI: 10.1097/MPG.0000000000003110

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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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