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Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.

作者信息

Hoffmann G, Gibson K M, Nyhan W L, Sweetman L

机构信息

Department of Pediatrics, University of Göttingen, Federal Republic of Germany.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:229-32. doi: 10.1007/BF01804243.

DOI:10.1007/BF01804243
PMID:2846965
Abstract
摘要

相似文献

1
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
J Inherit Metab Dis. 1988;11 Suppl 2:229-32. doi: 10.1007/BF01804243.
2
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
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Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.甲羟戊酸尿症——一种胆固醇和非甾醇类异戊二烯生物合成的先天性代谢缺陷病。
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Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.采用二乙氨基乙基纤维素柱色谱法进行甲羟戊酸激酶测定用于孕早期甲羟戊酸尿症的产前诊断和互补分析。
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Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
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6
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.人甲羟戊酸激酶的分子克隆及遗传性疾病甲羟戊酸尿症中一个错义突变的鉴定。
J Biol Chem. 1992 Jul 5;267(19):13229-38.
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Mevalonate kinase deficiency and autoinflammatory disorders.甲羟戊酸激酶缺乏症与自身炎症性疾病。
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Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.培养的人成纤维细胞和淋巴母细胞裂解物中的甲羟戊酸激酶:动力学特性、检测条件、携带者检测以及一名甲羟戊酸尿症患者残余活性的测量
Enzyme. 1989;41(1):47-55. doi: 10.1159/000469050.
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First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
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Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.甲羟戊酸激酶缺乏症:拓展临床和生化谱
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Isoprenoids: remarkable diversity of form and function.类异戊二烯:形式与功能的显著多样性。
Lipids. 2004 Apr;39(4):293-309. doi: 10.1007/s11745-004-1233-3.
2
Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome.高免疫球蛋白D血症和周期性发热综合征发热发作期间尿白三烯E4增加。
Arch Dis Child. 2001 Aug;85(2):158-9. doi: 10.1136/adc.85.2.158.

本文引用的文献

1
A rapid method of total lipid extraction and purification.一种快速的总脂质提取与纯化方法。
Can J Biochem Physiol. 1959 Aug;37(8):911-7. doi: 10.1139/o59-099.
2
Dolichol metabolism in cultured skin fibroblasts from patients with "neuronal" ceroid lipofuscinosis (Batten's disease).“神经元型”蜡样脂褐质沉积病(巴顿病)患者培养皮肤成纤维细胞中的多萜醇代谢
J Inherit Metab Dis. 1984;7(3):112-6. doi: 10.1007/BF01801766.
3
Mevalonic aciduria: an inborn error of cholesterol biosynthesis?
Clin Chim Acta. 1985 Oct 31;152(1-2):219-22. doi: 10.1016/0009-8981(85)90195-0.
4
A receptor-mediated pathway for cholesterol homeostasis.胆固醇稳态的受体介导途径。
Science. 1986 Apr 4;232(4746):34-47. doi: 10.1126/science.3513311.
5
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.甲羟戊酸尿症——一种胆固醇和非甾醇类异戊二烯生物合成的先天性代谢缺陷病。
N Engl J Med. 1986 Jun 19;314(25):1610-4. doi: 10.1056/NEJM198606193142504.
6
Induction of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts incubated with compactin (ML-236B), a competitive inhibitor of the reductase.在用还原酶的竞争性抑制剂美伐他汀(ML - 236B)孵育的人成纤维细胞中3 - 羟基 - 3 - 甲基戊二酰辅酶A还原酶活性的诱导。
J Biol Chem. 1978 Feb 25;253(4):1121-8.