A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Pediatr Gastroenterol Hepatol Nutr
Main Authors: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182483/
https://ncbi.nlm.nih.gov/pubmed/30345254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2018.21.4.365
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados