Fu, Rong

Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. [electronic resource] - Molecular genetics and metabolism Jan 2015 - 55-61 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2014.11.001 doi


Cells, Cultured
Fibroblasts
Guanine--metabolism
Humans
Hypoxanthine--metabolism
Hypoxanthine Phosphoribosyltransferase--deficiency
Lesch-Nyhan Syndrome--metabolism
Purines--biosynthesis