A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 365-368, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-717796
ABSTRACT
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 GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo IV
/
Transplante de Fígado
/
Enzima Ramificadora de 1,4-alfa-Glucana
/
Codificação Clínica
/
Glicogênio
/
Hepatopatias
Idioma:
Inglês
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Ano de publicação:
2018
Tipo de documento:
Artigo
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