Cytochrome b5 reductase deficiency, an uncommon cause of cyanosis
Posthumus, M.D.; van Berkel, W.
Netherlands Journal of Medicine 44(4): 136-140
1994
ISSN/ISBN: 0300-2977 PMID: 8196824 Document Number: 434120
A patient with cyanosis due to methaemoglobinaemia caused by cytochrome b-5 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.
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