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

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

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...

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Bibliographic Details
Main Authors: Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi, Alireza Shojazadeh
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Pediatrics
Subjects:
Glycogen storage disease
Phosphorylase kinase
PHKB
Novel mutation
Targeted gene sequencing
Online Access:https://doi.org/10.1186/s12887-021-02648-6

Internet

https://doi.org/10.1186/s12887-021-02648-6

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