生物素酶缺乏症：症状前治疗
Biotinidase deficiency: presymptomatic treatment.
作者信息
Wallace S J
出版信息
Arch Dis Child. 1985 Jun;60(6):574-5. doi: 10.1136/adc.60.6.574.
Abstract
Biotinidase deficiency presents with clinical signs of biotin deficiency at the age of 3 months, or soon after. In an infant in whom the diagnosis was made on cord blood, vision and hearing were normal before presymptomatic treatment with biotin. Physical and mental development are good at 14 months.
摘要
生物素酶缺乏症在3个月龄或之后不久出现生物素缺乏的临床症状。对于一名在脐血检测中确诊的婴儿，在进行生物素症状前治疗之前，其视力和听力正常。该婴儿在14个月时身体和智力发育良好。
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2
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.迟发性多种羧化酶缺乏症中的生物素酶活性不足
N Engl J Med. 1983 Jan 20;308(3):161. doi: 10.1056/NEJM198301203080321.
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Biotinidase deficiency: clinical course and biochemical findings.生物素酶缺乏症：临床病程及生化检查结果
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Lancet. 1983 Oct 15;2(8355):918. doi: 10.1016/s0140-6736(83)90913-3.
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