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A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily B member 4 gene (ABCB4), which encodes multidrug resistance...

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Detalles Bibliográficos
Autores principales: Qiao, Fei, Ren, Feng, Lu, Weiting, Yang, Haoran, Mo, Guiling, Wang, Shuangshuang, Liu, Lina, Xu, Xiangtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10367406/
https://www.ncbi.nlm.nih.gov/pubmed/37488596
http://dx.doi.org/10.1186/s12920-023-01602-y