Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
作者信息
Baumgartner E R, Suormala T, Wick H, Bonjour J P
出版信息
J Inherit Metab Dis. 1984;7 Suppl 2:123-5. doi: 10.1007/978-94-009-5612-4_36.
PMID:6434862
Abstract
摘要
相似文献
1
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
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引用本文的文献
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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
J Inherit Metab Dis. 1984;7(3):129-30. doi: 10.1007/BF01801771.
2
Biotinidase deficiency: factors responsible for the increased biotin requirement.生物素酶缺乏症：导致生物素需求增加的因素。
J Inherit Metab Dis. 1985;8 Suppl 1:59-64. doi: 10.1007/BF01800661.
3
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.生物素酶缺乏症患者生物素的肠道吸收与肾脏排泄
Eur J Pediatr. 1985 May;144(1):21-6. doi: 10.1007/BF00491919.
4
Enzyme studies in biotin-responsive disorders.生物素反应性疾病中的酶学研究。
J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659.
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