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A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
- Authors
- Choi, So Yoon; Kang, Ben; Choe, Jae Young; Lee, Yoon; Jang, Hyo Jeong; Park, Hyung-Doo; Lee, Suk-Koo; Choe, Yon Ho
- Issue Date
- 10월-2018
- Publisher
- KOREAN SOC PEDIATRIC GASTROENTEROLOGY & NUTRITION
- Keywords
- Andersen disease; Glycogen branching enzyme; Liver transplantation
- Citation
- PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, v.21, no.4, pp.365 - 368
- Indexed
- SCOPUS
KCI
- Journal Title
- PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
- Volume
- 21
- Number
- 4
- Start Page
- 365
- End Page
- 368
- ISSN
- 2234-8646
- 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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