卡纳万病产前诊断的不可靠验证：缺乏和正常胎儿皮肤成纤维细胞中的天冬氨酸酰基转移酶活性 - Suppr

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超能文献

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.

作者信息

Rolland M O, Mandon G, Bernard A, Zabot M T, Mathieu M

机构信息

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

出版信息

J Inherit Metab Dis. 1994;17(6):748. doi: 10.1007/BF00712018.

DOI:10.1007/BF00712018

PMID:7707699

Abstract

摘要

相似文献

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.卡纳万病产前诊断的不可靠验证：缺乏和正常胎儿皮肤成纤维细胞中的天冬氨酸酰基转移酶活性

J Inherit Metab Dis. 1994;17(6):748. doi: 10.1007/BF00712018.

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J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274.

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。

J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.

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J Inherit Metab Dis. 1994;17(3):295-7. doi: 10.1007/BF00711811.

Prenatal diagnosis of Canavan disease.卡纳万病的产前诊断

Prenat Diagn. 1999 Jul;19(7):669-70. doi: 10.1002/(sici)1097-0223(199907)19:7<669::aid-pd630>3.0.co;2-n.

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者天冬氨酸酰基转移酶基因突变分析。

Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. doi: 10.1007/0-387-30172-0_11.

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.一种新发现的与Canavan病相关的天冬氨酸酰基转移酶（ASPA）基因突变。

Fetal Pediatr Pathol. 2012 Aug;31(4):236-9. doi: 10.3109/15513815.2011.650292. Epub 2012 Apr 2.

Canavan disease: diagnosis and molecular analysis.卡纳万病：诊断与分子分析

Genet Test. 1997;1(1):21-5. doi: 10.1089/gte.1997.1.21.

引用本文的文献

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。

Cell Biosci. 2024 Apr 6;14(1):45. doi: 10.1186/s13578-024-01224-6.

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。

J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.

Prenatal diagnosis of Canavan disease--problems and dilemmas.

J Inherit Metab Dis. 1999 May;22(3):263-6. doi: 10.1023/a:1005534105933.

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.欧洲非犹太裔患者中卡纳万病（天冬氨酸酰基转移酶缺乏症）的分子基础。

Am J Hum Genet. 1995 Sep;57(3):572-80.

本文引用的文献

Canavan disease: biochemical and molecular studies.卡纳万病：生物化学与分子研究

J Inherit Metab Dis. 1993;16(4):744-52. doi: 10.1007/BF00711906.

J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274.

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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