酶缺陷的产前诊断——最新进展 - Suppr

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Prenatal diagnosis of enzyme defects--an update.

作者信息

Winchester B, Young E

机构信息

Department of Clinical Biochemistry, Hospitals for Sick Children, London.

出版信息

Arch Dis Child. 1991 Apr;66(4 Spec No):451-4. doi: 10.1136/adc.66.4_spec_no.451.

DOI:10.1136/adc.66.4_spec_no.451

PMID:2025044

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1590311/

Abstract

摘要

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本文引用的文献

A noninvasive method for determination of the sex and karyotype of the fetus from the maternal blood.

Hum Genet. 1988 Aug;79(4):357-9. doi: 10.1007/BF00282176.

Prospects for prenatal diagnosis during preimplantation human development.

Baillieres Clin Obstet Gynaecol. 1987 Sep;1(3):747-64. doi: 10.1016/s0950-3552(87)80015-9.

Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.

Lancet. 1987 Aug 22;2(8556):423-5. doi: 10.1016/s0140-6736(87)90959-7.

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Hum Genet. 1987 May;76(1):40-6. doi: 10.1007/BF00283048.

Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis.

Prenat Diagn. 1986 Nov-Dec;6(6):447-50. doi: 10.1002/pd.1970060608.

Genetic diagnosis of the preimplantation embryo.

Am J Med Genet. 1989 Oct;34(2):211-6. doi: 10.1002/ajmg.1320340216.

Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.

Prenat Diagn. 1989 Jun;9(6):448. doi: 10.1002/pd.1970090614.

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

N Engl J Med. 1989 Mar 9;320(10):609-17. doi: 10.1056/NEJM198903093201001.

Prenatal sex determination by DNA amplification from maternal peripheral blood.

Lancet. 1989 Dec 9;2(8676):1363-5. doi: 10.1016/s0140-6736(89)91969-7.

Diagnosis of beta-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos.

Lancet. 1989 Sep 2;2(8662):532-5. doi: 10.1016/s0140-6736(89)90655-7.

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