一种使用全羧化酶合成酶缺陷型培养成纤维细胞来测定生物素酶活性以及区分生物胞素和生物素的生物测定法。 - Suppr

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超能文献

A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts.

作者信息

Weiner D L, Grier R E, Wolf B

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:101-2. doi: 10.1007/BF01811478.

DOI:10.1007/BF01811478

PMID:3930849

Abstract

摘要

相似文献

A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts.一种使用全羧化酶合成酶缺陷型培养成纤维细胞来测定生物素酶活性以及区分生物胞素和生物素的生物测定法。

J Inherit Metab Dis. 1985;8 Suppl 2:101-2. doi: 10.1007/BF01811478.

Enzyme studies in combined carboxylase deficiency.联合羧化酶缺乏症的酶学研究

Ann N Y Acad Sci. 1985;447:235-51.

Biotinidase deficiency associated with renal loss of biocytin and biotin.

Ann N Y Acad Sci. 1985;447:272-87. doi: 10.1111/j.1749-6632.1985.tb18445.x.

Biotin holocarboxylase synthetase deficiency.

Ann N Y Acad Sci. 1985;447:288-96. doi: 10.1111/j.1749-6632.1985.tb18446.x.

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.

Biotinidase deficiency.

Ann N Y Acad Sci. 1985;447:252-62. doi: 10.1111/j.1749-6632.1985.tb18443.x.

Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.

J Inherit Metab Dis. 1984;7 Suppl 2:123-5. doi: 10.1007/978-94-009-5612-4_36.

Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.生物素反应性多种羧化酶缺乏症患者中全羧化酶合成酶的异质性

Am J Hum Genet. 1985 Mar;37(2):326-37.

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.

Multiple carboxylase deficiency.多种羧化酶缺乏症

Int J Biochem. 1988;20(4):363-70. doi: 10.1016/0020-711x(88)90202-9.

引用本文的文献

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.生物素酶缺乏症的实验室诊断，2017 年更新：美国医学遗传学与基因组学学院的技术标准和指南。

Genet Med. 2017 Oct;19(10). doi: 10.1038/gim.2017.84. Epub 2017 Jul 5.

Identification and assessment of markers of biotin status in healthy adults.健康成年人中生物素状态标志物的鉴定和评估。

Br J Nutr. 2013 Jul 28;110(2):321-9. doi: 10.1017/S0007114512005065. Epub 2013 Jan 10.

本文引用的文献

The enzymatic degradation of soluble bound biotin.

J Biol Chem. 1954 Oct;210(2):569-79.

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.生物素酶缺乏症：迟发性多种羧化酶缺乏症中的酶缺陷。

Clin Chim Acta. 1983 Jul 15;131(3):273-81. doi: 10.1016/0009-8981(83)90096-7.

Phenotypic variation in biotinidase deficiency.生物素酶缺乏症的表型变异。

J Pediatr. 1983 Aug;103(2):233-7. doi: 10.1016/s0022-3476(83)80351-5.

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.突变型全羧化酶合成酶：早期婴儿型生物素反应性多种羧化酶缺乏症中酶缺陷的证据。

J Clin Invest. 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402.

Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.生物素反应性多种羧化酶缺乏症的生化特征：生物遗传互补组内的异质性

Am J Hum Genet. 1981 Sep;33(5):692-701.

Animal biotinidase.动物生物素酶

Ann Med Exp Biol Fenn. 1965;43:Suppl 5:1-39.

Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.来自两个互补组的突变型丙酰辅酶A羧化酶之间的生化差异。

Am J Hum Genet. 1978 Sep;30(5):455-64.

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