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遗传性代谢疾病的产前诊断

Prenatal diagnosis of inherited metabolic diseases.

作者信息

Diukman R, Goldberg J D

机构信息

Department of Obstetrics, Gynecology and Reproductive Sciences, UCSF School of Medicine 94143-0132.

出版信息

West J Med. 1993 Sep;159(3):374-81.

PMID:8236980
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1011353/
Abstract

Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.

摘要

遗传性代谢疾病产前诊断的进展为高危夫妇提供了新的生育选择。这些进展体现在采样技术和分析方法两方面。在本综述中,我们概述了目前可用于诊断胎儿代谢疾病的产前诊断方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/649f/1011353/e24fb639ded3/westjmed00073-0144-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/649f/1011353/e24fb639ded3/westjmed00073-0144-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/649f/1011353/e24fb639ded3/westjmed00073-0144-a.jpg

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Prenatal diagnosis of inherited metabolic diseases.遗传性代谢疾病的产前诊断
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本文引用的文献

1
Prenatal diagnosis of harlequin ichthyosis.
Clin Genet. 1980 Apr;17(4):275-80. doi: 10.1111/j.1399-0004.1980.tb00147.x.
2
Menkes X linked disease: two clonal cell populations in heterozygotes.门克斯X连锁病:杂合子中的两个克隆细胞群体。
J Med Genet. 1980 Aug;17(4):262-6. doi: 10.1136/jmg.17.4.262.
3
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy.通过胎儿皮肤活检对先天性大疱性鱼鳞病样红皮病(表皮松解性角化过度症)进行产前诊断。
N Engl J Med. 1980 Jan 10;302(2):93-5. doi: 10.1056/NEJM198001103020205.
4
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.
5
Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.利用胎儿肝活检进行鸟氨酸转氨甲酰酶缺乏症的产前诊断。
Am J Hum Genet. 1984 Mar;36(2):320-8.
6
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.羊水3-羟基异戊酸的稳定同位素稀释分析:对亮氨酸分解代谢遗传性疾病产前诊断的贡献
J Inherit Metab Dis. 1984;7(1):15-20. doi: 10.1007/BF01805614.
7
Prenatal diagnosis of epidermolysis bullosa letalis.
Lancet. 1980 May 3;1(8175):949-52. doi: 10.1016/s0140-6736(80)91404-x.
8
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.一种新的脉冲标记技术在子宫内鉴定胱氨酸病杂合子基因型:初步报告
J Pediatr. 1970 Sep;77(3):468-70. doi: 10.1016/s0022-3476(70)80020-8.
9
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的产前诊断
Prenat Diagn. 1987 Feb;7(2):135-41. doi: 10.1002/pd.1970070210.
10
The distinction between arylsulphatases in chorionic villi.绒毛膜中芳基硫酸酯酶之间的区别。
Prenat Diagn. 1988 Sep;8(7):531-7. doi: 10.1002/pd.1970080708.