The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism-Reference-Cited by-同舟云学术

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

Published:1997-06 Issue:2 Volume:20 Page:171-178
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Nyhan W. L.¹

Affiliation:

1. ; Division of Biochemical Genetics, Department of Pediatrics; University of California, San Diego; 9500 Gilman Drive La Jolla CA 92093-0830 USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005348504512/fullpdf

Reference16 articles.

1. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome;Bakay;Pediatr Res,1979

2. Uber familiar gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind;Catel;Dtsch Med Wochenschr,1959

3. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency;Davidson;Am J Hum Genet,1991

4. 5-Methylcytosine in eukaryotic DNA;Ehrlich;Science,1981

5. Isolation and characterization of a full length, expressible cDNA for human hypoxanthine guanine phosphoribosyl transferase;Jolly;Proc Natl Acad Sci USA,1983

Cited by 125 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. Multiwalled carbon nanotubes supported Fe nanostructured interfaces for electrochemical detection of uric acid;Microchemical Journal;2024-09

2. Electrochemical biosensors for point-of-care testing;Bio-Design and Manufacturing;2024-07

3. Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila;eLife;2024-05-03

4. One-carbon unit supplementation fuels purine synthesis in tumor-infiltrating T cells and augments checkpoint blockade;Cell Chemical Biology;2024-05

5. Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila;2024-02-21