A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

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...

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Published in:Pediatric gastroenterology, hepatology & nutrition Vol. 21; no. 4; pp. 365 - 368
Main Authors: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Format: Journal Article
Language:Korean
Published: 2018
Subjects:
Andersen disease
Glycogen branching enzyme
Liver transplantation
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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.
AbstractList 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.
Author Jang, Hyo Jeong
Kang, Ben
Choi, So Yoon
Lee, Suk-Koo
Choe, Jae Young
Choe, Yon Ho
Lee, Yoon
Park, Hyung-Doo
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  fullname: Jang, Hyo Jeong
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  fullname: Park, Hyung-Doo
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  fullname: Lee, Suk-Koo
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  fullname: Choe, Yon Ho
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Keywords Andersen disease
Glycogen branching enzyme
Liver transplantation
Language Korean
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Snippet Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading...
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Title A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
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