Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleLesch-Nyhan syndrome: a novel complex mutation with severe phenotype.AuthorsGucev, Z.; Koceva, S.; Marinaki, A.; Fairbanks, L.; Kirovski, I.; Tasic, V.AbstractA letter to the editor is presented regarding Lesch-Nyhan disease (LND), a purine metabolism inborn defect resulting from hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.SubjectsLETTERS to the editor; INBORN errors of metabolismPublicationClinical Genetics, 2010, Vol 78, Issue 3, p296ISSN0009-9163Publication typeArticleDOI10.1111/j.1399-0004.2010.01428.x