Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review

INTRODUCTION: Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the fir...

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Detalles Bibliográficos
Autores principales: Zhu, Qian, Wen, Xiao-Yu, Zhang, Ming-Yuan, Jin, Qing-Long, Niu, Jun-Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
4500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6867740/
https://www.ncbi.nlm.nih.gov/pubmed/31725618
http://dx.doi.org/10.1097/MD.0000000000017775

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6867740/
https://www.ncbi.nlm.nih.gov/pubmed/31725618
http://dx.doi.org/10.1097/MD.0000000000017775

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