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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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Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: Cakmakli, Hasan F., Torres, Rosa J., Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher C., Puig, Juan Garcia, Jinnah, H.A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Accesso online: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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