4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

Suppr

超能文献

作者信息

Uziel G, Bardelli P, Pantaleoni C, Rimoldi M, Savoiardo M

机构信息

Child Neurology Department, Istituto Neurologico C. Besta, Milan, Italy.

出版信息

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

DOI:10.1007/BF00711670

PMID:7609441

Abstract

摘要

相似文献

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

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

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

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

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。

Neuropediatrics. 1998 Feb;29(1):14-22. doi: 10.1055/s-2007-973527.

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.

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的临床表型：23例新患者的病例报告

Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567.

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.

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

[4-Hydroxybutyric aciduria].[4-羟基丁酸尿症]

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):250-1.

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。

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

Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria.

J Inherit Metab Dis. 1985;8(2):58. doi: 10.1007/BF01801664.

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.

引用本文的文献

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.琥珀酸半醛脱氢酶缺乏症的诊断和管理共识指南。

Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4.

Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient mice.补充谷氨酰胺对琥珀酸半醛脱氢酶缺陷小鼠大脑的细胞和分子影响。

JIMD Rep. 2020 Aug 15;56(1):58-69. doi: 10.1002/jmd2.12151. eCollection 2020 Nov.

Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.琥珀酸半醛脱氢酶缺乏症，一种 GABA 代谢紊乱：发现 30 年后的临床试验。

J Inherit Metab Dis. 2013 May;36(3):401-10. doi: 10.1007/s10545-012-9499-5. Epub 2012 Jun 28.

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

J Inherit Metab Dis. 1996;19(3):313-8. doi: 10.1007/BF01799261.

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016.

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

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

本文引用的文献

Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.

Prenat Diagn. 1986 May-Jun;6(3):187-94. doi: 10.1002/pd.1970060305.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.

Neurology. 1986 Jul;36(7):957-63. doi: 10.1212/wnl.36.7.957.

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.

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

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.

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

Purification and properties of two succinate semialdehyde dehydrogenases from human brain.

Biochim Biophys Acta. 1978 May 11;524(1):26-36. doi: 10.1016/0005-2744(78)90099-2.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验