六例琥珀酸半醛脱氢酶缺乏症患者的氨己烯酸治疗 - Suppr

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超能文献

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

作者信息

Gibson K M, Jakobs C, Ogier H, Hagenfeldt L, Eeg-Olofsson K E, Eeg-Olofsson O, Aksu F, Weber H P, Rossier E, Vollmer B

机构信息

Baylor Research Institute, Dallas, Texas, USA.

出版信息

J Inherit Metab Dis. 1995;18(2):143-6. doi: 10.1007/BF00711750.

DOI:10.1007/BF00711750

PMID:7564230

Abstract

摘要

相似文献

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.六例琥珀酸半醛脱氢酶缺乏症患者的氨己烯酸治疗

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Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).一名患有琥珀酸半醛脱氢酶缺乏症的男孩使用氨己烯酸（γ-乙烯基-GABA）治疗时发生的癫痫发作

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4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

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4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.4-羟基丁酸与琥珀酸半醛脱氢酶缺乏症的临床表型，一种γ-氨基丁酸代谢的先天性缺陷。

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Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.在琥珀酸半醛脱氢酶缺乏症患者接受vigabatrin治疗期间监测体液中4-羟基丁酸水平。

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Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.使用简单溶剂萃取和电子捕获负离子质谱碎片分析法对脑脊液中的γ-氨基丁酸进行稳定同位素稀释分析。

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Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.琥珀酸半醛脱氢酶缺乏症：一种用于诊断的代谢和基因组学方法。

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The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.琥珀酸半醛脱氢酶缺乏症患者的γ-氨基丁酸和皮质兴奋性标志物减少，其存在和严重程度与这些标志物相关。

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Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse.托林 1 部分纠正 vigabatrin 诱导的小鼠线粒体增加。

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本文引用的文献

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.胎儿脑、肝和肾中正常和缺陷型琥珀酸半醛脱氢酶活性的酶学和免疫学证明

J Inherit Metab Dis. 1993;16(3):523-6. doi: 10.1007/BF00711671.

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

J Inherit Metab Dis. 1993;16(3):520-2. doi: 10.1007/BF00711670.

J Inherit Metab Dis. 1993;16(3):508-12. doi: 10.1007/BF00711667.

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

Lancet. 1989 Nov 4;2(8671):1105-6. doi: 10.1016/s0140-6736(89)91126-4.

Vigabatrin in GABA metabolism disorders.氨己烯酸用于GABA代谢紊乱。

Lancet. 1989 May 13;1(8646):1074. doi: 10.1016/s0140-6736(89)92466-5.

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.4-羟基丁酸的稳定同位素稀释分析：一种用于生理体液定量及4-羟基丁酸尿症产前诊断的准确方法。

Biomed Environ Mass Spectrom. 1990 Feb;19(2):89-93. doi: 10.1002/bms.1200190207.

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.4-羟基丁酸尿症：荧光测定法在测定培养的人淋巴母细胞提取物中琥珀酸半醛脱氢酶活性的应用。

Clin Chim Acta. 1991 Feb 15;196(2-3):219-21. doi: 10.1016/0009-8981(91)90076-o.

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.

Eur J Pediatr. 1992 Jun;151(6):466. doi: 10.1007/BF01959366.

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