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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.
Article in English | 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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Glycogen Storage Disease / Glycogen Storage Disease Type IV / Liver Transplantation / 1,4-alpha-Glucan Branching Enzyme / Clinical Coding / Glycogen / Liver Diseases Language: English Journal: Pediatric Gastroenterology, Hepatology & Nutrition Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Glycogen Storage Disease / Glycogen Storage Disease Type IV / Liver Transplantation / 1,4-alpha-Glucan Branching Enzyme / Clinical Coding / Glycogen / Liver Diseases Language: English Journal: Pediatric Gastroenterology, Hepatology & Nutrition Year: 2018 Type: Article