Macrocytic anemia in Lesch-Nyhan disease and its variants


Cakmakli H. F. , Torres R. J. , Menendez A., YALÇIN ÇAKMAKLI G., Porter C. C. , Puig J. G. , ...More

GENETICS IN MEDICINE, vol.21, no.2, pp.353-360, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.1038/s41436-018-0053-1
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.353-360

Abstract

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.