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Glycogen storage disease type IV: a case report

Lee KY, Seo KH, Lee HK, Kim JW

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited...
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A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

Choi SY, Kang B, Choe JY, Lee Y, Jang HJ, Park HD, Lee SK, Choe YH

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

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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