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Description
J Physiol 591(23):60396052
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Cytochrome b5 reductase (CBR) deficiency is an enzymopathy that does not cause hemolytic anemia: it instead causes recessive congenital methemoglobinemia, 29 often presenting as cyanosis in infants, that may mislead one to suspect congenital heart disease
PMID: 29303625
