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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: Cakmakli, Hasan F., Torres, Rosa J., Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher C., Puig, Juan Garcia, Jinnah, H.A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Mynediad Ar-lein: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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