Prenatal diagnosis of Canavan disease.

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作者信息

Matalon R, Michals K, Gashkoff P, Kaul R

机构信息

Research Institute, Miami Children's Hospital, FL 33155.

出版信息

J Inherit Metab Dis. 1992;15(3):392-4. doi: 10.1007/BF02435985.

DOI:10.1007/BF02435985

PMID:1405477

Abstract

摘要

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本文引用的文献

Diagnosis of organic acidemias by gas chromatography--mass spectrometry.通过气相色谱-质谱联用技术诊断有机酸血症。

Lab Res Methods Biol Med. 1981;6:1-158.

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.

SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

J Inherit Metab Dis. 1989;12 Suppl 2:329-31. doi: 10.1007/BF03335413.

Purification, characterization, and localization of aspartoacylase from bovine brain.

J Neurochem. 1991 Jan;56(1):129-35. doi: 10.1111/j.1471-4159.1991.tb02571.x.

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