Macrocytic anemia in Lesch-Nyhan disease and its variants

Cakmakli, Hasan; Torres, Rosa; Menendez, Araceli; YALÇIN ÇAKMAKLI, GÜL; Porter, Christopher; Puig, Juan; Jinnah, H.

doi:10.1038/s41436-018-0053-1

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 (SCI-Expanded, Scopus)

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
Open Archive Collection: AVESIS Open Access Collection
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.