生物素酶缺乏症：脑脊液中的代谢产物 - Suppr

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Biotinidase deficiency: metabolites in CSF.

作者信息

Fois A, Cioni M, Balestri P, Bartalini G, Baumgartner R, Bachmann C

出版信息

J Inherit Metab Dis. 1986;9(3):284-5. doi: 10.1007/BF01799663.

DOI:10.1007/BF01799663

PMID:3099073

Abstract

摘要

相似文献

Biotinidase deficiency: metabolites in CSF.生物素酶缺乏症：脑脊液中的代谢产物

J Inherit Metab Dis. 1986;9(3):284-5. doi: 10.1007/BF01799663.

[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].[生物素酶缺乏症：一种可通过维生素H成功治疗的先天性代谢疾病]

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[Results of a pilot study of neonatal screening for congenital biotinidase deficiency].

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Cerebral metabolic changes in biotinidase deficiency.生物素酶缺乏症中的脑代谢变化。

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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.

Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.喉喘鸣作为生物素酶缺乏症患者的主要症状。

J Inherit Metab Dis. 1988;11(3):312-3. doi: 10.1007/BF01800381.

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Adv Pediatr. 1991;38:1-21.

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Plasma metabolomic profiles reflective of glucose homeostasis in non-diabetic and type 2 diabetic obese African-American women.反映非糖尿病和 2 型糖尿病肥胖非裔美国女性葡萄糖稳态的血浆代谢组学特征。

PLoS One. 2010 Dec 10;5(12):e15234. doi: 10.1371/journal.pone.0015234.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.生物素反应性基底节疾病定位于2q36.3，由SLC19A3基因突变所致。

Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3.

Physiology and pathophysiology of organic acids in cerebrospinal fluid.脑脊液中有机酸的生理学与病理生理学

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Cerebral metabolic change after treatment in biotinidase deficiency.

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Neurological manifestations of organic acid disorders.有机酸代谢紊乱的神经学表现。

Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786.

Cerebrospinal fluid organic acids in biotinidase deficiency.

J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668.

本文引用的文献

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.通过一项全州范围的新生儿筛查项目检测出的四名生物素酶缺乏症患儿的临床发现。

N Engl J Med. 1985 Jul 4;313(1):16-9. doi: 10.1056/NEJM198507043130104.

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.

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.通过单一血样快速鉴别羧化酶缺乏症并评估生物素反应性。

Clin Chim Acta. 1985 Jan 30;145(2):151-62. doi: 10.1016/0009-8981(85)90282-7.

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