生物素酶缺乏症：临床病程及生化检查结果 - Suppr

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Biotinidase deficiency: clinical course and biochemical findings.

作者信息

Schubiger G, Caflisch U, Baumgartner R, Suormala T, Bachmann C

出版信息

J Inherit Metab Dis. 1984;7(3):129-30. doi: 10.1007/BF01801771.

DOI:10.1007/BF01801771

PMID:6438396

Abstract

摘要

相似文献

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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引用本文的文献

Biotinidase Deficiency: Prevalence, Impact And Management Strategies.生物素酶缺乏症：患病率、影响及管理策略

Pediatric Health Med Ther. 2020 May 4;11:127-133. doi: 10.2147/PHMT.S198656. eCollection 2020.

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.

Biotinidase deficiency: presymptomatic treatment.生物素酶缺乏症：症状前治疗

Arch Dis Child. 1985 Jun;60(6):574-5. doi: 10.1136/adc.60.6.574.

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

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Rett syndrome revisited: a patient with biotin dependency.再探雷特综合征：一名生物素依赖患者

Eur J Pediatr. 1986 Apr;144(6):563-6. doi: 10.1007/BF00496036.

本文引用的文献

[PURIFICATION AND PROPERTIES OF BIOTINIDASE FROM SWINE KIDNEY AND LACTOBACILLUS CASEI].

Biochem Z. 1963;338:599-613.

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.

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.

Organic acids in urine: sample preparation for GC/MS.

J Inherit Metab Dis. 1984;7 Suppl 2:126. doi: 10.1007/978-94-009-5612-4_37.

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.

Biotin deficiency in chicks fed a wheat-based diet.以小麦为基础日粮喂养的雏鸡的生物素缺乏症。

Int J Vitam Nutr Res. 1976;46(3):314-21.

Short chain fatty acids in plasma and brain: quantitative determination by gas chromatography.血浆和大脑中的短链脂肪酸：气相色谱法定量测定

Clin Chim Acta. 1979 Mar 1;92(2):153-9. doi: 10.1016/0009-8981(79)90109-8.

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