脑肝肾综合征产前诊断的可能性。 - Suppr

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Possibility of prenatal diagnosis of Zellweger syndrome.

作者信息

Björkhem I, Sisfontes L, Boström B, Kase F, Hagenfeldt L, Blomstrand R

出版信息

Lancet. 1984 Jun 2;1(8388):1234-5. doi: 10.1016/s0140-6736(84)91712-4.

DOI:10.1016/s0140-6736(84)91712-4

PMID:6144940

Abstract

摘要

相似文献

Possibility of prenatal diagnosis of Zellweger syndrome.脑肝肾综合征产前诊断的可能性。

Lancet. 1984 Jun 2;1(8388):1234-5. doi: 10.1016/s0140-6736(84)91712-4.

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.

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.

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.

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。

Eur J Pediatr. 1986 Apr;145(1-2):136-8. doi: 10.1007/BF00441876.

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells.

Prenat Diagn. 1987 Jun;7(5):349-54. doi: 10.1002/pd.1970070509.

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.

Amniotic fluid alpha-fetoprotein and congenital hydrocephalus.

Br Med J. 1976 Dec 11;2(6049):1450. doi: 10.1136/bmj.2.6049.1450-a.

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.

[Laboratory diagnosis of respiratory distress syndrome. Composition of fatty acids and phospholipids in amniotic fluid].

Padiatr Grenzgeb. 1982;21(4):253-7.

引用本文的文献

Prenatal diagnosis in a new peroxisomal disease by the W-particle separation method.通过W粒子分离法对一种新的过氧化物酶体疾病进行产前诊断。

J Inherit Metab Dis. 1994;17(5):621-5. doi: 10.1007/BF00711602.

In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid.关于齐-韦二氏综合征患者胆汁酸形成的体内和体外研究。过氧化物酶体在胆酸和鹅去氧胆酸正常生物合成中起重要作用的证据。

J Clin Invest. 1985 Dec;76(6):2393-402. doi: 10.1172/JCI112252.

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.

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.

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