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 | 超能文献

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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.

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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.

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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.

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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.

5

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.

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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.

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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.

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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.

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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.

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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

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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.

2

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.

3

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

本文引用的文献

1

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.

2

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.

3

Peroxisomal disorders in neurology.