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Macrocytic Anemia In Lesch-Nyhan Disease and its Variants

PURPOSE: Lesch-Nyhan disease (LND) is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study is to describe macrocytic erythrocytes as another common aspect of the phenotype. METHODS: Results of 257 complete blood cou...

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Bibliographic Details
Published in:Genet Med
Main Authors: Cakmakli, Hasan F., Torres, Rosa J., Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher C., Puig, Juan Garcia, Jinnah, H.A.
Format: Artigo
Language:Inglês
Published: 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6281870/
https://ncbi.nlm.nih.gov/pubmed/29875418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0053-1
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