CYTOCHROME B(5) REDUCTASE DEFICIENCY, AN UNCOMMON CAUSE OF CYANOSIS

Authors
POSTHUMUS MD VANBERKEL W
Citation
Md. Posthumus et W. Vanberkel, CYTOCHROME B(5) REDUCTASE DEFICIENCY, AN UNCOMMON CAUSE OF CYANOSIS, Netherlands journal of medicine, 44(4), 1994, pp. 136-140
Citations number
15
Categorie Soggetti
Medicine, General & Internal
Journal title
Netherlands journal of medicine → ACNP
ISSN journal
03002977
Volume
44
Issue
4
Year of publication
1994
Pages
136 - 140
Database
ISI
SICI code
0300-2977(1994)44:4<136:CBRDAU>2.0.ZU;2-D
Abstract
A patient with cyanosis due to methaemoglobinaemia caused by cytochrom e b(5) reductase deficiency is described. Investigation of his family confirmed transmission of this disorder as an autosomal recessive trai t. The consequences of this rare condition are discussed.