Associated Papers
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome.
Rana M et al.
Jimd Reports, 2021
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
de Gemmis P et al.
Mutation Research, 2010
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Bertelli M et al.
Journal of Inherited Metabolic Disease, 2004
Select a paper to view details