4Mak BS,Chi CS,Tasi CR,et al.New mutations of the HPRT in Lesch-Nyhan syndrome.Pediatr Neural,2000,23(4):332 -335.
5Jinnah HA,De Gregorio L,Harris JC,et al.The spectrum of inherited mutatiens causing HPRT deficiency:75 new cases end a review of 196 previously cases.Murat Res,2000,463(3):309 -326.
7Hladnik U,Nyhan WL,Bertelli M.Variable expreession of HPRT deficiency in 5 members of a family with the same mutation.Arch Neurol,2008,65(9):1240-1243.
8Canyuk B,E-Wan A,Keawwijit W,et al.The role for glutamic acid at position 196 in human hypoxanthine phosphoribosyltransferasue (HPRT) as investigated using site -directed mutagenesis.Nucleosides Nucleotides Nucleic Acids,2008,27(6):894-899.
9Garcia-Pavia P,Tortes BJ,Rivero M,.et al.Phosphcribo sylpyro -phosphate synthetase overactivity as a cause of uric overpro-ducfion in a young women.Arthritis Rheum,2003,48(7):2036 -2041.
10lizasa T.Increased activity of PRPP synthetaas.Nippon Rinsho,2008,66(4):694 -698.