Article
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
Mutation research - 13 Oct 2010
de Gemmis Paola, Anesi Laura, Lorenzetto Elisa, Gioachini Ilenia, Fortunati Elisabetta, Zandonà Gessica, Fanin Erika, Fairbanks Lynette, Andrighetto Gilberto, Parmigiani Pietro, Dolcetta Diego, Nyhan William L, Hladnik Uros
Abstract excerpt
BACKGROUND: Lesch-Nyhan (LND) disease is an inborn error of purine metabolism which results from deficiency of the activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT). In the classical form of the disease the activity of the enzyme is completely deficient and the patient has cognitive impairment, spasticity, dystonia and self-injurious behaviour, as well as elevated concentrations of uric acid in...
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