Biotin-responsive multiple carboxylase deficiency of infantile onset.
Biotin-responsive multiple carboxylase deficiency of infantile onset.
复制标题
婴儿期发病的生物素反应性多重羧化酶缺乏症。
DOI：
10.1016/s0022-3476(81)80334-4
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Cowan,M
中科院分区：
文献类型：
--
作者：
Packman,S;Sweetman,L;Yoshino,M;Baker,H;Cowan,M
初步的生化研究报告的女孩与生物素反应性多羧化酶缺乏症，包括生物素值的生理液体中的斗争发作的形式。发育和生长一直保持正常，而她一直接受20毫克生物素口服每天4岁9个月的年龄。
Initial biochemical studies are reported for a girl with the infantile-onset form of biotin-responsive multiple carboxylase deficiency, including biotin values in physiological fluids. Development and growth have remained normal while she has been receiving 20 mg biotin by mouth daily to the age of 4 years 9 months.