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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

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

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

关键词: 糖原累积病Ⅸa型, PHKA2基因, 突变, 肝肿大, 低血糖