双功能酶缺乏症：通过互补分析在一名病因不明的过氧化物酶体β氧化受损患者中鉴定出一种新型过氧化物酶体疾病。 - Suppr

Suppr

超能文献

Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.

作者信息

Wanders R J, van Roermund C W, Brul S, Schutgens R B, Tager J M

机构信息

Department of Pediatrics, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1992;15(3):385-8. doi: 10.1007/BF02435983.

DOI:10.1007/BF02435983

PMID:1357231

Abstract

摘要

相似文献

Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.双功能酶缺乏症：通过互补分析在一名病因不明的过氧化物酶体β氧化受损患者中鉴定出一种新型过氧化物酶体疾病。

J Inherit Metab Dis. 1992;15(3):385-8. doi: 10.1007/BF02435983.

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.过氧化物酶体酰基辅酶A氧化酶缺乏症和双功能酶缺乏症的新型亚型，伴有可检测到的酶蛋白：通过互补分析进行鉴定。

Am J Hum Genet. 1994 Jan;54(1):36-43.

Peroxisomal disorders: overview.过氧化物酶体疾病：概述

Ann N Y Acad Sci. 1996 Dec 27;804:427-41. doi: 10.1111/j.1749-6632.1996.tb18634.x.

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.一种具有酶活性缺陷的双功能蛋白：利用新型方法测量过氧化物酶体β-氧化酶活性鉴定一种新的过氧化物酶体疾病。

J Inherit Metab Dis. 1990;13(3):375-9. doi: 10.1007/BF01799399.

Peroxisomal bifunctional enzyme deficiency.过氧化物酶体双功能酶缺乏症

J Clin Invest. 1989 Mar;83(3):771-7. doi: 10.1172/JCI113956.

Peroxisomal beta-oxidation: enzymology and molecular biology.过氧化物酶体β-氧化：酶学与分子生物学

Ann N Y Acad Sci. 1996 Dec 27;804:86-98. doi: 10.1111/j.1749-6632.1996.tb18610.x.

Biochemical findings in a series of Australian patients with isolated defects in peroxisomal beta-oxidation.一系列澳大利亚过氧化物酶体β氧化存在孤立缺陷患者的生化检查结果

Ann N Y Acad Sci. 1996 Dec 27;804:750-1. doi: 10.1111/j.1749-6632.1996.tb18690.x.

Induction of the three peroxisomal beta-oxidation enzymes is synergistically regulated by dexamethasone and fatty acids, and counteracted by insulin in Morris 7800C1 hepatoma cells in culture.在培养的莫里斯7800C1肝癌细胞中，三种过氧化物酶体β-氧化酶的诱导受地塞米松和脂肪酸的协同调节，并被胰岛素抵消。

Eur J Biochem. 1992 Sep 15;208(3):705-11. doi: 10.1111/j.1432-1033.1992.tb17238.x.

Functions and organization of peroxisomal beta-oxidation.过氧化物酶体β-氧化的功能与组织

Ann N Y Acad Sci. 1996 Dec 27;804:99-115. doi: 10.1111/j.1749-6632.1996.tb18611.x.

D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation.D-羟酰基辅酶A脱氢酶缺乏症。一种新的过氧化物酶体疾病的鉴定及其对其他β-氧化障碍疾病的意义。

Adv Exp Med Biol. 1999;466:365-9.

引用本文的文献

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.再探过氧化物酶体双功能蛋白缺乏症：其真正酶学和分子基础的解析

Am J Hum Genet. 1999 Jan;64(1):99-107. doi: 10.1086/302180.

Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.人过氧化物酶体烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶cDNA的氨基酸和核苷酸序列

J Inherit Metab Dis. 1998 Feb;21(1):23-8. doi: 10.1023/a:1005355112975.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.过氧化物酶体D-羟酰基辅酶A脱氢酶缺乏症：双功能蛋白缺乏症中酶缺陷的解决及其分子基础

Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. doi: 10.1073/pnas.95.5.2128.

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.D-3-羟酰基辅酶A脱水酶/D-3-羟酰基辅酶A脱氢酶双功能蛋白缺乏症：一种新发现的过氧化物酶体疾病。

Am J Hum Genet. 1997 Nov;61(5):1153-62. doi: 10.1086/301599.

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.测定绒毛膜绒毛样本、血细胞和培养细胞中的磷酸二羟丙酮酰基转移酶（DHAPAT）。

J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432.

Immunocytochemical localization of peroxisomal proteins in human liver and kidney.过氧化物酶体蛋白在人肝脏和肾脏中的免疫细胞化学定位

J Inherit Metab Dis. 1995;18 Suppl 1:135-54. doi: 10.1007/BF00711436.

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.培养的人皮肤成纤维细胞中过氧化物酶体脂肪酸β-氧化的测定

J Inherit Metab Dis. 1995;18 Suppl 1:113-24. doi: 10.1007/BF00711434.

Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.成纤维细胞中降植烷酸的氧化及其在过氧化物酶体β-氧化缺陷诊断中的应用。

J Clin Invest. 1996 Feb 1;97(3):681-8. doi: 10.1172/JCI118465.

Am J Hum Genet. 1994 Jan;54(1):36-43.

Peroxisomal disorders: a review.过氧化物酶体疾病：综述

J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362.

本文引用的文献

Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.一名具有X连锁肾上腺脑白质营养不良生化特征女孩的新生儿惊厥和智力发育迟缓：一种可能的新的过氧化物酶体疾病实体。

Neurology. 1988 Jul;38(7):1100-7. doi: 10.1212/wnl.38.7.1100.

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.“假性齐-韦二氏”综合征中的胆汁酸分析；过氧化物酶体β氧化缺陷的线索

J Inherit Metab Dis. 1988;11 Suppl 2:165-8. doi: 10.1007/BF01804226.

Peroxisomal disorders in neurology.神经病学中的过氧化物酶体疾病

J Neurol Sci. 1988 Dec;88(1-3):1-39. doi: 10.1016/0022-510x(88)90203-1.

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。

J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.

Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids.

Biochem Biophys Res Commun. 1990 Oct 15;172(1):364-9. doi: 10.1016/s0006-291x(05)80218-9.

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.具有可检测过氧化物酶体的过氧化物酶体β氧化缺陷：一例新生儿起病且病程进展性的病例

Eur J Pediatr. 1990 Jul;149(10):722-6. doi: 10.1007/BF01959531.

First prenatal diagnosis of acyl-CoA oxidase deficiency.

J Inherit Metab Dis. 1990;13(3):371-4. doi: 10.1007/BF01799398.

The inborn errors of peroxisomal beta-oxidation: a review.过氧化物酶体β-氧化的先天性代谢缺陷：综述

J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330.

Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder.非典型核黄素反应性戊二酸尿症及过氧化物酶体戊二酰辅酶A氧化酶活性缺乏：一种新的过氧化物酶体疾病。

J Inherit Metab Dis. 1991;14(2):165-73. doi: 10.1007/BF01800589.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验