Macrocytic anemia in Lesch-Nyhan disease and its variants

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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 (SCI-Expanded) 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 (SCI-EXPANDED), Scopus
  • Page Numbers: pp.353-360
  • Hacettepe University Affiliated: Yes

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.