GENETICS IN MEDICINE, vol.21, no.2, pp.353-360, 2019 (Peer-Reviewed Journal)
Article / Article
GENETICS IN MEDICINE
Science Citation Index Expanded, Scopus
Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was to describe macrocytic erythrocytes as another common aspect of the phenotype.