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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Dettagli Bibliografici
Pubblicato in:Pediatr Gastroenterol Hepatol Nutr
Autori principali: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182483/
https://ncbi.nlm.nih.gov/pubmed/30345254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2018.21.4.365
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