Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme

MeSH terms

• Adult
• Athetosis
• Female
• Gout / genetics
• Humans
• Hypoxanthines
• Intellectual Disability
• Lesch-Nyhan Syndrome / complications
• Lesch-Nyhan Syndrome / diagnostic imaging
• Male
• Phosphotransferases / metabolism
• Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
• Radiography
• Self Mutilation
• Sex Chromosomes*
• Uric Acid / urine