机译:糖原储存疾病型由于糖原合成酶2(Gys2)基因的新型帧突变突变,呈现禁食低血糖和餐后高血糖症
Univ Hlth Sci Suleymaniye Women Matern &
Child Dis Training &
R Dept Pediat Endocrinol Istanbul;
Univ Hlth Sci Suleymaniye Women Matern &
Child Dis Training &
R Dept Pediat Istanbul Turkey;
Univ Hlth Sci Suleymaniye Women Matern &
Child Dis Training &
R Dept Pediat Istanbul Turkey;
Univ Hlth Sci Suleymaniye Women Matern &
Child Dis Training &
R Dept Pediat Istanbul Turkey;
Univ Hlth Sci Suleymaniye Women Matern &
Child Dis Training &
R Dept Med Genet Istanbul Turkey;
ketotic hypoglycemia; glycogen storage disease type 0; glycogen synthase 2 gene;
机译:患有空腹低血糖和餐后高血糖的儿童中的糖原合酶2(GYS2)基因发生新的移码突变,导致糖原贮积病为0型
机译:糖原合酶缺乏症(0型糖原贮积病),伴有高血糖和糖尿症:三个新突变的报告。
机译:0型糖原贮积病患儿糖原合酶2基因的新突变
机译:糖原储存疾病在马耳他犬型IA
机译:过渡到自我管理:I型和III型糖原贮积病患者及其父母的观点和经验。
机译:0型糖原贮积病引起的低血糖儿童肝糖原合酶基因突变。
机译:糖原贮积病0型低血糖儿童肝糖原合成酶基因的突变