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First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi.

作者信息

Kleijer W J, Mancini G M, Jahoda M G, Vosters R P, Sachs E S, Niermeijer M F, Galjaard H

出版信息

N Engl J Med. 1984 Nov 8;311(19):1257.

PMID:6493280
Abstract
摘要

相似文献

1
First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi.
N Engl J Med. 1984 Nov 8;311(19):1257.
2
Krabbe's disease: first trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues.
Prenat Diagn. 1987 Jun;7(5):329-32. doi: 10.1002/pd.1970070506.
3
[Krabbe's disease: globoid cell leukodystrophy. Clinical and prenatal diagnosis].[克拉伯病：球状细胞脑白质营养不良。临床及产前诊断]
Tijdschr Kindergeneeskd. 1985 Oct;53(5):190-3.
4
Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.
Hum Genet. 1987 Dec;77(4):342-4. doi: 10.1007/BF00291423.
5
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi.使用绒毛膜绒毛对克拉伯病（球形细胞脑白质营养不良）进行产前酶学诊断。使用未培养绒毛的陷阱。
Hum Genet. 1989 Dec;84(1):83-5. doi: 10.1007/BF00210679.
6
[Enzymatic cycling method--microchemical and rapid diagnosis of inborn error of metabolism].[酶循环法——先天性代谢缺陷的微量化学与快速诊断]
Nihon Sanka Fujinka Gakkai Zasshi. 1982 Nov;34(11):1917-8.
7
Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.
Clin Chim Acta. 1982 Nov 10;125(3):265-73. doi: 10.1016/0009-8981(82)90256-x.
8
[A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates].
Biokhimiia. 1988 Sep;53(9):1539-45.
9
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
J Inherit Metab Dis. 1978;1(3):115-8. doi: 10.1007/BF01805686.
10
[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].
Dtsch Med Wochenschr. 1976 May 21;101(21):821-7. doi: 10.1055/s-0028-1104178.

引用本文的文献

1
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.荷兰及其他欧洲血统的克拉伯病患者GALC基因中的常见突变。
J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165.
2
Prenatal diagnosis of genetic disease by chorionic villi sampling.经绒毛取样进行遗传病的产前诊断。
Indian J Pediatr. 1986 Jul-Aug;53(4):489-97. doi: 10.1007/BF02749532.
3
Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.
Hum Genet. 1987 Dec;77(4):342-4. doi: 10.1007/BF00291423.
4
Biochemical diagnosis of genetic disease.遗传性疾病的生化诊断
Experientia. 1986 Oct 15;42(10):1075-85. doi: 10.1007/BF01941280.
5
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi.使用绒毛膜绒毛对克拉伯病（球形细胞脑白质营养不良）进行产前酶学诊断。使用未培养绒毛的陷阱。
Hum Genet. 1989 Dec;84(1):83-5. doi: 10.1007/BF00210679.