Macrocytic anemia in Lesch-Nyhan disease and its variants.

doi:10.1038/s41436-018-0053-1

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Article

Macrocytic anemia in Lesch-Nyhan disease and its variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Cakmakli Hasan F, Torres Rosa J, Menendez Araceli, Yalcin-Cakmakli Gul, Porter Christopher C, Puig Juan Garcia, Jinnah H A

Abstract excerpt

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. METHODS: The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen...

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Identifiers

PMID: 29875418
DOI: 10.1038/s41436-018-0053-1
PMCID: PMC6281870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.