Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.

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作者信息

Schutgens R B, Heymans H S, Wanders R J, van den Bosch H, Schrakamp G

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:153-4. doi: 10.1007/BF01811505.

DOI:10.1007/BF01811505

PMID:3930873

Abstract

摘要

相似文献

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.

J Inherit Metab Dis. 1985;8 Suppl 2:153-4. doi: 10.1007/BF01811505.

Peroxisomal matrix enzymes in Zellweger syndrome: activity and subcellular localization in liver.齐-韦二氏综合征中的过氧化物酶体基质酶：肝脏中的活性及亚细胞定位

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The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.脑肝肾（泽尔韦格）综合征：基于缩醛磷脂生物合成受损的产前检测。

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Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.齐-韦二氏（脑-肝-肾）综合征患者中酰基辅酶A：磷酸二羟丙酮酰基转移酶缺乏症

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A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.通过证明培养的羊水细胞中不含过氧化氢酶颗粒（过氧化物酶体）来进行脑肝肾（泽韦格）综合征的产前检测。

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Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.脑肝肾综合征：诊断、预防及治疗中的生化程序

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The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.脑肝肾（泽韦格）综合征。培养的皮肤成纤维细胞中缩醛磷脂从头生物合成受损。

Biochim Biophys Acta. 1985 Jan 9;833(1):170-4. doi: 10.1016/0005-2760(85)90266-8.

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.脑肝肾（泽韦格）综合征中缩醛磷脂缺乏症。

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The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.脑肝肾（泽尔韦格）综合征：一种改进的生化诊断方法及其在产前检测中的潜在价值。

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The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.泽尔韦格脑肝肾综合征的产前诊断

Prenat Diagn. 1985 Jan-Feb;5(1):27-34. doi: 10.1002/pd.1970050106.

引用本文的文献

Peroxisomal disorders: a newly recognised group of genetic diseases.过氧化物酶体病：一组新发现的遗传性疾病。

Eur J Pediatr. 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734.

本文引用的文献

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.脑肝肾（泽尔韦格）综合征与新生儿肾上腺脑白质营养不良：表型及极长链脂肪酸蓄积方面的相似性

Johns Hopkins Med J. 1982 Dec;151(6):344-51.

Biochem Biophys Res Commun. 1984 Apr 16;120(1):179-84. doi: 10.1016/0006-291x(84)91430-x.

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.脑肝肾（泽韦格）综合征。极长链脂肪酸水平升高及降解受损及其在产前诊断中的应用。

N Engl J Med. 1984 May 3;310(18):1141-6. doi: 10.1056/NEJM198405033101802.

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.脑肝肾综合征中的过氧化物酶体和线粒体缺陷

Science. 1973 Oct 5;182(4107):62-4. doi: 10.1126/science.182.4107.62.

Biochim Biophys Acta. 1985 Jan 9;833(1):170-4. doi: 10.1016/0005-2760(85)90266-8.

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.泽尔韦格脑肝肾综合征。八例报告并对发病率、肝脏病变及哌可酸代谢缺陷加以评论。

J Pediatr. 1975 Mar;86(3):382-7. doi: 10.1016/s0022-3476(75)80967-x.

Defects of bile acid synthesis in Zellweger's syndrome.齐-韦二氏综合征中胆汁酸合成缺陷

Science. 1979 Mar 16;203(4385):1107-8. doi: 10.1126/science.424737.

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