First prenatal diagnosis of acyl-CoA oxidase deficiency.

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作者信息

Wanders R J, Schelen A, Feller N, Schutgens R B, Stellaard F, Jakobs C, Mitulla B, Seidlitz G

机构信息

Department of Paediatrics, University Hospital Amsterdam, The Netherlands.

出版信息

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

DOI:10.1007/BF01799398

PMID:2122103

Abstract

摘要

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First prenatal diagnosis of acyl-CoA oxidase deficiency.

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本文引用的文献

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.新生儿肾上腺脑白质营养不良：新病例、生化研究以及与泽尔韦格综合征和相关过氧化物酶体多系统营养不良综合征的鉴别诊断

Am J Med Genet. 1986 Apr;23(4):869-901. doi: 10.1002/ajmg.1320230404.

Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid.

Eur J Pediatr. 1988 Nov;148(2):175-6. doi: 10.1007/BF00445940.

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).一种新的过氧化物酶体疾病，伴有过氧化物酶体增大及酰基辅酶A氧化酶特异性缺乏（假性新生儿肾上腺脑白质营养不良）。

Am J Hum Genet. 1988 Mar;42(3):422-34.

Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome.

Eur J Pediatr. 1989 Apr;148(6):581. doi: 10.1007/BF00441567.

Prenatal and perinatal diagnosis of peroxisomal disorders.过氧化物酶体病的产前和围产期诊断。

J Inherit Metab Dis. 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291.

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.

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug.大鼠肝脏过氧化物酶体中的脂肪酰辅酶A氧化系统；降血脂药物氯贝丁酯对其的增强作用。

Proc Natl Acad Sci U S A. 1976 Jun;73(6):2043-6. doi: 10.1073/pnas.73.6.2043.

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