一名生物素酶缺乏症患者尿液和脑脊液中不同的有机酸模式。 - Suppr

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超能文献

Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.

作者信息

Di Rocco M, Superti-Furga A, Durand P, Cerone R, Romano C, Bachmann C, Baumgartner R

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:119-20. doi: 10.1007/978-94-009-5612-4_34.

DOI:10.1007/978-94-009-5612-4_34

PMID:6434860

Abstract

摘要

相似文献

Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.一名生物素酶缺乏症患者尿液和脑脊液中不同的有机酸模式。

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

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引用本文的文献

Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.生物素酶缺乏症——通过酶测定法进行诊断及随访研究。

Indian J Clin Biochem. 2003 Jul;18(2):23-6. doi: 10.1007/BF02867363.

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

J Inherit Metab Dis. 1997 Nov;20(6):755-60. doi: 10.1023/a:1005307415289.

Cerebral metabolic change after treatment in biotinidase deficiency.

J Inherit Metab Dis. 1993;16(2):399-407. doi: 10.1007/BF00710288.

Cerebrospinal fluid organic acids in biotinidase deficiency.

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

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.

"Cerebral" lactic acidosis and biotinidase deficiency.“脑性”乳酸酸中毒与生物素酶缺乏症

Eur J Pediatr. 1988 Nov;148(2):175. doi: 10.1007/BF00445939.

"Cerebral" lactic acidosis and cerebrospinal fluid pH.“脑性”乳酸酸中毒与脑脊液pH值

Eur J Pediatr. 1988 Aug;147(6):667-8. doi: 10.1007/BF00442495.

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