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

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作者信息

Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M

机构信息

Department of Pediatrics, University of Illinois, Chicago 60612.

出版信息

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

DOI:10.1007/BF03335413

PMID:2512436

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.

Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.胡勒氏综合征：组织培养中酸性粘多糖的生物合成。

Proc Natl Acad Sci U S A. 1966 Oct;56(4):1310-6. doi: 10.1073/pnas.56.4.1310.

N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.一名患有进行性脑萎缩儿童的N-乙酰天门冬氨酸尿症

Clin Chim Acta. 1986 Aug 15;158(3):217-27. doi: 10.1016/0009-8981(86)90285-8.

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: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.

J Inherit Metab Dis. 1988;11(3):307-8. doi: 10.1007/BF01800378.

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.

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