Article
Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs.
Scientific reports - 8 Dec 2020
Jaffey J A, Reading N S, Abdulmalik O, Kreisler R, Bullock G, Wiest A, Villani N A, Mhlanga-Mutangadura T, Johnson G S, Cohn L A, Isaza N, Harvey J W, Giger U
Abstract excerpt
Genotype-phenotype correlations of humans and dogs with hereditary methemoglobinemia are not yet well characterized. We determined total hemoglobin and methemoglobin (MetHb) concentrations, cytochrome b5 reductase (CYB5R) enzyme activities, genotypes, and clinical signs in 30 dogs with persistent cyanosis without cardiopulmonary disease. Erythrocytic CYB5R enzyme activities were low in all dogs assayed....
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