中国实用儿科杂志

• 病例报告 • 上一篇    

以间断便血为首发表现的PHKA2基因突变致糖原累积病IXa 1例报告

  

  1. 上海交通大学医学院附属瑞金医院儿内科,上海 200025
  • 出版日期:2020-03-06 发布日期:2020-04-16

Glycogen storage disease type IXa caused by PHKA2 mutation with the primary manifestation of intermittent bloody stool:One case report

  • Online:2020-03-06 Published:2020-04-16

关键词: 糖原累积病Ⅸa型, PHKA2基因, 突变, 肝肿大, 低血糖

Key words: glycogen storage disease typeⅨa, PHKA2 gene, mutation, hepatomegaly, hypoglycemia