Atıf İçin Kopyala
Cakmakli H. F., Torres R. J., Menendez A., YALÇIN ÇAKMAKLI G., Porter C. C., Puig J. G., ...Daha Fazla
GENETICS IN MEDICINE, cilt.21, sa.2, ss.353-360, 2019 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
21
Sayı:
2
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Basım Tarihi:
2019
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Doi Numarası:
10.1038/s41436-018-0053-1
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Dergi Adı:
GENETICS IN MEDICINE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.353-360
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Hacettepe Üniversitesi Adresli:
Evet
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.