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Scand J Haematol ; 20(5): 385-93, 1978 May.
Article in English | MEDLINE | ID: mdl-663552

ABSTRACT

NADH-methaemoglobin reductase deficiency has been found in 4 Cuban families; 3 subjects carried the mild form of the deficiency while in 2 sibs of the fourth family the deficiency was associated with neurological involvement. The parents in this family were consanguinous and the sibs were shown to be homozygous for a new fast electrophoretic variant. It was named Diaphorase Santiago de Cuba.


Subject(s)
Cytochrome-B(5) Reductase/deficiency , Methemoglobinemia/genetics , NADH, NADPH Oxidoreductases/deficiency , Adolescent , Adult , Child , Cuba , Cytochrome-B(5) Reductase/genetics , Electrophoresis, Starch Gel , Erythrocytes/enzymology , Female , Glucosephosphate Dehydrogenase/metabolism , Glutathione Reductase/metabolism , Humans , Intellectual Disability/genetics , Leukocytes/enzymology , Male , Pedigree , Phosphogluconate Dehydrogenase/metabolism , Pyruvate Kinase/metabolism
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