Canavan病的孕早期产前诊断。 - Suppr

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超能文献

First-trimester prenatal diagnosis of Canavan disease.

作者信息

Rolland M O, Divry P, Mandon G, Thoulon J M, Fiumara A, Mathieu M

机构信息

Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

出版信息

J Inherit Metab Dis. 1993;16(3):581-3. doi: 10.1007/BF00711687.

DOI:10.1007/BF00711687

PMID:7609457

Abstract

摘要

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Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.天冬氨酸酰基转移酶的细胞和分子机制及其在卡纳万病中的作用。

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The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.非犹太裔患者中卡纳万病中天冬氨酸酰基转移酶基因突变谱。

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本文引用的文献

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.Canavan病患者的天冬氨酸酰基转移酶缺乏症和N-乙酰天冬氨酸尿症。

Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.

N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.天冬氨酸酰基转移酶缺乏所致的N-乙酰天冬氨酸尿症——儿童脑白质营养不良的一种新病因。

J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease.脑脊液、血液、尿液和羊水中N-乙酰天门冬氨酸的稳定同位素稀释分析：Canavan病的准确产后诊断及产前诊断潜力

J Inherit Metab Dis. 1991;14(5):653-60. doi: 10.1007/BF01799929.

Prenatal detection of Canavan disease.卡纳万病的产前检测

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Prenatal diagnosis of Canavan disease.

Eur J Pediatr. 1992 Aug;151(8):620. doi: 10.1007/BF01957737.

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