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. , ...Daha Fazla

GENETICS IN MEDICINE, cilt.21, ss.353-360, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0053-1
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayıları: ss.353-360

Özet

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.