Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

• Main Authors: Zahra Beyzaei (Author), Fatih Ezgu (Author), Bita Geramizadeh (Author), Alireza Alborzi (Author), Alireza Shojazadeh (Author)
• 格式: 图书
• 出版: BMC, 2021-04-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Abstract Background Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of...