- A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
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Choi SY, Kang B, Choe JY, Lee Y, Jang HJ, Park HD, Lee SK, Choe YH
- KMID: 2422003
- Pediatr Gastroenterol Hepatol Nutr.
- 2018 Oct;21(4):365-368.
- doi: 10.5223/pghn.2018.21.4.365
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... -
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- Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
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Ban HR, Kim KM, Jang JY, Kim GH, You HW, Kim K, Yu E, Kim DY, Kim KH, Lee YJ, Lee SG, Park YN, Koh H, Chung KS
- KMID: 1744243
- Gut Liver.
- 2009 Mar;3(1):60-63.
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal... -
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