An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1973.tb01931.x/fullpdf
Reference13 articles.
1. de Bruyn , C. H. M. M. T. L. Oei 1973a Hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human hair roots
2. de Bruyn , C. H. M. M. T. L. Oei 1973b Lesch-Nyhan syndrome: incorporation of hypoxanthine in stimulated lymphocytes Exp. Cell Res
3. A new assay method for hypoxanthine-guanine phosphoribosyltransferase;Chow;J. Lab. clin. Med.,1970
4. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency;Emmerson;Science,1969
5. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles;Gartler;Science,1971
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome);Clinical Genetics;2008-04-23
2. Studies on hair roots for carrier detection in hypoxanthine-guanine phosphoribosyl transferase deficiency;Clinical Genetics;2008-04-23
3. Uric acid lithiasis associated with altered kinetics of hypoxanthine-guanine phosphoribosyltranferase;Clinical Biochemistry;1976-01
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