Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Introduction and objectives: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder caused by mutations in the ABCB4 gene. The aim of this study was to present the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients diagnosed...

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Autores principales: Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Marta Wawrzynowicz-Syczewska, Joanna Pawłowska, Irena Jankowska
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Cholestasis
Progressive familial intrahepatic cholestasis
Next-generation sequencing
Liver transplantation
Children
Specialties of internal medicine
RC581-951
Acceso en línea:https://doaj.org/article/9a46db97073649f0ab4e2caea1806267
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https://doaj.org/article/9a46db97073649f0ab4e2caea1806267

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