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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Enregistré dans:
Détails bibliographiques
Publié dans:Pediatr Gastroenterol Hepatol Nutr
Auteurs principaux: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Format: Artigo
Langue:Inglês
Publié: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018
Sujets:
Case Report
Accès en ligne: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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