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...
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: | |
Online Access: | https://www.karger.com/Article/FullText/517103 |
Similar Items
-
Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings
by: Seçil Arslansoyu Çamlar, et al.
Published: (2013-03-01) -
Dorfman-Chanarin syndrome: An unusual presentation
by: Anupa Mary Job, et al.
Published: (2019-01-01) -
Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome
by: Arzu Akyay, et al.
Published: (2020-11-01) -
Chanarin-Dorfman syndrome treatment with acitretin
by: Reem AlNeyadi, MD, et al.
Published: (2022-06-01) -
Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients
by: Nadia Waheed, et al.
Published: (2021-08-01)