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Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

作者信息

Chambliss K L, Lee C F, Ogier H, Rabier D, Jakobs C, Gibson K M

机构信息

Metabolic Disease Center, Baylor Research Institute, Dallas, Texas, USA.

出版信息

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

DOI:10.1007/BF00711671
PMID:7609442
Abstract
摘要

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1
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.
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Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues.
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Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).五名代谢谱提示琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）患者的异常酶学发现。
J Inherit Metab Dis. 1998 Jun;21(3):255-61. doi: 10.1023/a:1005368106563.
4
Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.[U-14C]琥珀酸半醛在培养的人淋巴母细胞中的氧化：11例4-羟基丁酸尿症患者残余琥珀酸半醛脱氢酶活性的测定
Pediatr Res. 1988 Oct;24(4):455-60. doi: 10.1203/00006450-198810000-00007.
5
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。
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A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.
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Methodological problems in the histochemical demonstration of succinate semialdehyde dehydrogenase activity.琥珀酸半醛脱氢酶活性组织化学显示中的方法学问题
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[A case of succinic semialdehyde dehydrogenase deficiency].
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Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的产前检测。
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Alcohol Clin Exp Res. 1989 Dec;13(6):755-61. doi: 10.1111/j.1530-0277.1989.tb00416.x.

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Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.琥珀酸半醛脱氢酶：生化-分子-临床疾病机制、氧化还原调控及功能意义。
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本文引用的文献

1
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的产前检测。
Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213.
2
Inherited disorders of GABA metabolism.γ-氨基丁酸代谢的遗传性疾病。
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
3
The distribution of GABA-transaminase-dehydrogenase activity in the myenteric plexus of rat small intestine: a histochemical analysis.大鼠小肠肌间神经丛中γ-氨基丁酸转氨酶-脱氢酶活性的分布：组织化学分析
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
两个外显子跳跃突变作为琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的分子基础。
Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964.
4
Inherited disorders of GABA metabolism.γ-氨基丁酸代谢的遗传性疾病。
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
5
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.
6
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.
Neurosci Lett. 1986 Feb 14;64(1):85-90. doi: 10.1016/0304-3940(86)90668-3.
4
Electron-cytochemical localization of succinic semialdehyde dehydrogenase activity in Purkinje neurons and hepatocytes of the rat.
J Neurosci Methods. 1986 Jul;17(1):31-42. doi: 10.1016/0165-0270(86)90032-4.
5
Succinic semialdehyde dehydrogenase activity in bovine adrenal medulla and blood platelets: a comparative study with the brain enzyme.牛肾上腺髓质和血小板中琥珀酸半醛脱氢酶活性：与脑酶的比较研究
Comp Biochem Physiol B. 1987;86(3):489-92. doi: 10.1016/0305-0491(87)90436-6.
6
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.琥珀酸半醛脱氢酶缺乏症中的尿有机酸：4-羟基丁酸α-氧化的证据、琥珀酸半醛与丙酮酸脱氢酶的相互作用以及线粒体β-氧化可能的继发性抑制
J Inherit Metab Dis. 1987;10(4):367-75. doi: 10.1007/BF01799979.
7
Identification of the mouse aldehyde dehydrogenases important in aldophosphamide detoxification.鉴定在醛磷酰胺解毒中起重要作用的小鼠醛脱氢酶。
Cancer Res. 1990 Aug 15;50(16):4991-5002.
8
Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum.
Int J Biochem. 1992 Sep;24(9):1493-9. doi: 10.1016/0020-711x(92)90077-e.