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Prenatal diagnosis of enzyme defects.

作者信息

Winchester B

机构信息

Department of Clinical Biochemistry, Institute of Child Health, London.

出版信息

Arch Dis Child. 1990 Jan;65(1 Spec No):59-67. doi: 10.1136/adc.65.1_spec_no.59.

DOI:10.1136/adc.65.1_spec_no.59
PMID:2407202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1590174/
Abstract
摘要

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Prenatal diagnosis of enzyme defects--an update.酶缺陷的产前诊断——最新进展
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本文引用的文献

1
Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood.
Biosci Rep. 1983 Jan;3(1):31-8. doi: 10.1007/BF01121568.
2
Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans.通过羊水糖胺聚糖的二维电泳对黏多糖贮积症进行产前诊断。
Prenat Diagn. 1982 Jul;2(3):169-76. doi: 10.1002/pd.1970020305.
3
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.通过对羊水二羧酸进行直接化学分析对II型戊二酸尿症进行产前诊断。
Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213.
4
Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Report of 66 cases.超声引导下经脐穿刺采集胎儿血样。66例报告。
Prenat Diagn. 1983 Oct;3(4):271-7. doi: 10.1002/pd.1970030402.
5
Prenatal diagnosis of the organic acidurias.有机酸尿症的产前诊断。
J Inherit Metab Dis. 1984;7 Suppl 1:18-22. doi: 10.1007/BF03047368.
6
Inherited metabolic disorders.遗传性代谢紊乱
Br Med Bull. 1983 Oct;39(4):378-85. doi: 10.1093/oxfordjournals.bmb.a071851.
7
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.妊娠早期镰状细胞贫血的产前诊断。
N Engl J Med. 1983 Oct 6;309(14):831-3. doi: 10.1056/NEJM198310063091405.
8
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.泰-萨克斯病的产前诊断。酶谱上己糖胺酶A、B和C/S带的反射测定法。
Hum Genet. 1983;65(2):172-5. doi: 10.1007/BF00286657.
9
First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.妊娠早期（绒毛膜活检）对瓜氨酸血症和甲基丙二酸尿症的诊断。
Lancet. 1984 Dec 8;2(8415):1340. doi: 10.1016/s0140-6736(84)90848-1.
10
A single-operator technique for first-trimester chorion biopsy.
Lancet. 1983 Dec 10;2(8363):1340-1. doi: 10.1016/s0140-6736(83)91095-4.