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

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 applicable to Ch...

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Detalles Bibliográficos
Autores principales: Fu, Junling, Wang, Tong, Xiao, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441210/
https://www.ncbi.nlm.nih.gov/pubmed/30925902
http://dx.doi.org/10.1186/s12881-019-0789-8

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