Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.

doi:10.1002/jpn3.12392

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Article

Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.

Journal of pediatric gastroenterology and nutrition - 1 Dec 2024

Alam Seema, Lal Bikrant Bihari, Ravindranath Aathira, Bavdekar Ashish, Dheivamani Nirmala, Snehavardhan Pandey, Shah Aashay, Tripathi Parijat Ram, Nagral Aabha, Srikanth K P, Shah Ira, Ramakrishna Somashekara Hosaagrahara, Suchismita Arya, Waikar Yogesh, Shah Vaibhav, Nalwalla Zahabiya, Kumar Karunesh, Maria Arjun, Sibal Anupam, Sivaramakrishnan Viswanathan M, Wadhwa Nishant, Ashritha A, Sood Vikrant, Khanna Rajeev

Abstract excerpt

Ubiquitin-specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the...

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PMID: 39440620
DOI: 10.1002/jpn3.12392

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