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Cytochrome b5 reductase deficiency, an uncommon cause of cyanosis
1Department of Rheumatology, Hospital Enschede, Netherlands.
The Netherlands Journal of Medicine
|April 1, 1994
Abstract:
A patient with cyanosis due to methaemoglobinaemia caused by cytochrome b5 reductase deficiency is described. Investigation of his family confirmed transmission of this disorder as an autosomal recessive trait. The consequences of this rare condition are discussed.