Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with bio...

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Detalles Bibliográficos
Autores principales: Boga, Salih, Jain, Dhanpat, Schilsky, Michael L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600706/
https://www.ncbi.nlm.nih.gov/pubmed/26473142
http://dx.doi.org/10.5223/pghn.2015.18.3.202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600706/
https://www.ncbi.nlm.nih.gov/pubmed/26473142
http://dx.doi.org/10.5223/pghn.2015.18.3.202

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