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。 - Suppr

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超能文献

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

作者信息

Wanders R J, van Roermund C W, Schelen A, Schutgens R B, Tager J M, Stephenson J B, Clayton P T

机构信息

Department of Paediatrics, University Hospital Amsterdam, The Netherlands.

出版信息

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

DOI:10.1007/BF01799399

PMID:2122104

Abstract

摘要

相似文献

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。

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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 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.

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.

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