A service of the
U.S. National Library of Medicine®
These sources were used to develop the Genetics Home Reference
Duan J, Nilsson L, Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat. 2004 Jun;23(6):599-611.
Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. Review.
Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun;108 Suppl 3:409-11. Review.
Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. 1997 Jun;20(2):171-8. Review.
Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore). 2001 Mar;80(2):102-12.
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992 Nov;90(3):195-207. Review.
: December 2007
: February 23, 2015
Lister Hill National Center for Biomedical
U.S. National Library of
National Institutes of
Department of Health & Human
Freedom of Information
Indicates a page outside Genetics Home Reference.
Links to web sites outside the Federal Government do not constitute an endorsement.
Selection Criteria for Web Links
This site complies with the
for trustworthy health information: