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Prenatal diagnosis of Canavan disease.

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

相似文献

1
Prenatal diagnosis of Canavan disease.
J Inherit Metab Dis. 1992;15(3):392-4. doi: 10.1007/BF02435985.
2
Prenatal diagnosis of Canavan disease--problems and dilemmas.
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3
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.
4
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
Am J Med Genet. 1984 Oct;19(2):359-67. doi: 10.1002/ajmg.1320190218.
5
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.通过同时采集绒毛膜绒毛和羊水进行丙酸血症的早期产前诊断。
J Inherit Metab Dis. 1990;13(3):345-8. doi: 10.1007/BF01799391.
6
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.
7
First-trimester prenatal diagnosis of aspartylglucosaminuria.孕早期天冬氨酰葡糖胺尿症的产前诊断
Prenat Diagn. 1989 Sep;9(9):617-20. doi: 10.1002/pd.1970090904.
8
Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.采用一种简单的分光光度法，通过测定绒毛、绒毛膜绒毛成纤维细胞或羊水细胞中的酶活性，对3-羟基-3-甲基戊二酸尿症进行产前诊断。
J Inherit Metab Dis. 1988;11(4):430. doi: 10.1007/BF01800436.
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Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.利用培养的羊水细胞、未培养的绒毛膜绒毛样本和胎儿血细胞对溶酶体贮积病进行产前酶学诊断：哈杰泰佩大学的经验。
Prenat Diagn. 2019 Nov;39(12):1080-1085. doi: 10.1002/pd.5547. Epub 2019 Aug 22.
10
First-trimester prenatal diagnosis of Canavan disease.Canavan病的孕早期产前诊断。
J Inherit Metab Dis. 1993;16(3):581-3. doi: 10.1007/BF00711687.

引用本文的文献

1
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.
2
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.卡纳万病的临床不同表型与残余天冬氨酸酰基转移酶活性相关。
Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.
3
Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

本文引用的文献

1
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.
2
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.
3
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。
基因专利和授权实践对塔-萨克斯病和卡纳万病遗传检测和携带者筛查获取的影响。
Genet Med. 2010 Apr;12(4 Suppl):S5-S14. doi: 10.1097/GIM.0b013e3181d5a669.
4
The single cell as a tool for genetic testing: credibility, precision, implication.单细胞作为基因检测工具：可信度、精准度、影响。
J Assist Reprod Genet. 2010 Jun;27(6):335-41. doi: 10.1007/s10815-010-9396-5. Epub 2010 Mar 3.
5
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中天冬氨酸酰基转移酶基因新突变的鉴定与特征分析。
J Inherit Metab Dis. 2002 Nov;25(7):557-70. doi: 10.1023/a:1022091223498.
6
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.
7
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.通过测量羊水 中 N-乙酰-L-天冬氨酸对卡纳万病进行产前检测。
J Inherit Metab Dis. 1993;16(5):918-9. doi: 10.1007/BF00714302.
8
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.Canavan病（天冬氨酸酰基转移酶缺乏症）的可靠产前诊断：酶学分析与代谢物分析的比较
J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274.
9
Canavan disease: mutations among Jewish and non-Jewish patients.卡纳万病：犹太患者和非犹太患者中的突变情况。
Am J Hum Genet. 1994 Jul;55(1):34-41.
10
First-trimester prenatal diagnosis of Canavan disease.Canavan病的孕早期产前诊断。
J Inherit Metab Dis. 1993;16(3):581-3. doi: 10.1007/BF00711687.
J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.
4
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
J Inherit Metab Dis. 1989;12 Suppl 2:329-31. doi: 10.1007/BF03335413.
5
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.