Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment
Author:
Funder
Ministry of Higher Education and Scientific Research
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
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1. Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment;Annals of Human Genetics;2023-12-18
2. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures;Orphanet Journal of Rare Diseases;2022-12-22
3. Ursodeoxycholic Acid in Liver Cirrhosis: A Chinese Perspective;Pharmacotherapy for Liver Cirrhosis and Its Complications;2022
4. Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome;Clinica Chimica Acta;2021-07
5. The role of genetic mutations in intrahepatic cholestasis of pregnancy;Taiwanese Journal of Obstetrics and Gynecology;2020-09
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