共 50 条
- [1] CHARACTERIZATION OF MUTATIONS IN THE LESCH-NYHAN DISEASE AND PARTIAL HPRT DEFICIENCY CLINICAL RESEARCH, 1992, 40 (01): : A29 - A29
- [2] Lesch-Nyhan disease with no HPRT1 gene mutation? REVISTA CLINICA ESPANOLA, 2014, 214 (08): : 459 - 460
- [5] A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease Pharmaceutical Research, 2017, 34 : 1477 - 1490
- [8] Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2017, 36 (11): : 704 - 711
- [9] HPRTSardinia:: A new point mutation causing HPRT deficiency without Lesch-Nyhan disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2006, 1762 (01): : 29 - 33
- [10] SIGNIFICANCE OF DEFICIENCY STATE IN LESCH-NYHAN DISEASE ACTA PAEDIATRICA SCANDINAVICA, 1970, 59 (03): : 233 - &