title: Medical diagnosis, management and treatment of Lesch Nyhan disease.
abstract: The aim of this presentation is to inform about Lesch Nyhan Disease from the point of view of the affected boys and their families living with the condition from day to day and also to show the importance of research in treating and managing the disease (In Caring for Children with Lesch Nyhan Disease--A Guide for Parents and Professionals; McCarthy, G.T., Ed.; PUMPA and Chailey Heritage Clinical Services: East Sussex, UK, 2002).
authors.affiliation: Chailey Heritage Clinical Services, North Chailey, East Sussex, UK.
authors.forename: Gillian
authors.initials: G
authors.lastname: McCarthy
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000628:therapy