Biochemical diagnosis of an X-linked disease in utero.

Suppr

超能文献

作者信息

Fujimoto W Y, Seegmiller J E, Uhlendorf B W, Jacobson C B

出版信息

Lancet. 1968 Aug 31;2(7566):511-2. doi: 10.1016/s0140-6736(68)90671-5.

DOI:10.1016/s0140-6736(68)90671-5

PMID:4174524

Abstract

摘要

相似文献

Biochemical diagnosis of an X-linked disease in utero.

Lancet. 1968 Aug 31;2(7566):511-2. doi: 10.1016/s0140-6736(68)90671-5.

Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

Science. 1969 Jun 13;164(3885):1303-5. doi: 10.1126/science.164.3885.1303.

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

Biochem Genet. 1970 Jun;4(3):377-83. doi: 10.1007/BF00485754.

Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens.

JAMA. 1970 Apr 13;212(2):316-8.

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Science. 1968 Apr 26;160(3826):425-7. doi: 10.1126/science.160.3826.425.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.

Proc Natl Acad Sci U S A. 1970 Mar;65(3):577-84. doi: 10.1073/pnas.65.3.577.

The prenatal diagnosis of inborn errors of metabolism.

Annu Rev Med. 1972;23:57-76. doi: 10.1146/annurev.me.23.020172.000421.

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.

Rev Eur Etud Clin Biol. 1970 Nov;15(9):942-7.

[Prenatal diagnosis in hereditary metabolic diseases].

Dtsch Med Wochenschr. 1975 Aug 15;100(33):1674-7. doi: 10.1055/s-0028-1106443.

Inosinate pyrophosphorylase activity in immature blood cells in X-linked congenital hyperuricosuria.

Biochem Genet. 1969 Aug;3(4):311-6. doi: 10.1007/BF00485715.

引用本文的文献

Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Ann Rheum Dis. 1980 Apr;39(2):103-17. doi: 10.1136/ard.39.2.103.

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

Biochem Genet. 1970 Jun;4(3):377-83. doi: 10.1007/BF00485754.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.

Proc Natl Acad Sci U S A. 1971 Jul;68(7):1516-9. doi: 10.1073/pnas.68.7.1516.

The use of amniocentesis for prenatal genetic counseling.

Bull N Y Acad Med. 1970 Nov;46(11):916-21.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.

Proc Natl Acad Sci U S A. 1970 Mar;65(3):577-84. doi: 10.1073/pnas.65.3.577.

[Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

Humangenetik. 1972;15(2):126-35. doi: 10.1007/BF00295739.

Antenatal detection of genetic enzyme defects.

Proc R Soc Med. 1971 Nov;64(11):1137-9. doi: 10.1177/003591577106401109.

The prenatal diagnosis of metabolic disorders.

J R Coll Physicians Lond. 1973 Apr;7(3):251-8.

Molecular variation in relation to purine metabolism.

J Clin Pathol Suppl (R Coll Pathol). 1974;8:48-63.

Prenatal diagnosis and genetic counselling.

J Clin Pathol Suppl (R Coll Pathol). 1974;8:150-5.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验