Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)

Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)

Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-al...

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Bibliographic Details
Main Authors: Rita Quelhas da Costa, Francisco Laranjeira, Isaura Duarte Ribeiro, António Filipe Santos, Filipe Nery
Format: Article
Language:English
Published: Karger Publishers 2021-07-01
Series:GE: Portuguese Journal of Gastroenterology
Subjects:
dorfman-chanarin syndrome
inborn errors of metabolism
metabolic associated fatty liver disease
liver transplantation
Online Access:https://www.karger.com/Article/FullText/517103

Internet

https://www.karger.com/Article/FullText/517103

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