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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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Cakmakli, Hasan F., Torres, Rosa J., Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher C., Puig, Juan Garcia, Jinnah, H.A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha: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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