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...

Descripción completa

Detalles Bibliográficos
Autores principales: Quelhas da Costa, Rita, Laranjeira, Francisco, Duarte Ribeiro, Isaura, Santos, António Filipe, Nery, Filipe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Clinical Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274987/
https://www.ncbi.nlm.nih.gov/pubmed/35979251
http://dx.doi.org/10.1159/000517103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274987/
https://www.ncbi.nlm.nih.gov/pubmed/35979251
http://dx.doi.org/10.1159/000517103

Ejemplares similares