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