A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

Abstract Background PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However, whether the phenotypes are applicab...

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Bibliographic Details
Main Authors: Junling Fu, Tong Wang, Xinhua Xiao
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genetics
Subjects:
Glycogen storage disease type IX
Phosphorylase b kinase 2
PHKA2 gene
Hypoglycaemia
Online Access:http://link.springer.com/article/10.1186/s12881-019-0789-8

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