Linked Life Data

826072

Source:http://linkedlifedata.com/resource/pubmed/id/826072

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1977-1-25
pubmed:abstractText
Three brothers with congenital recessive methaemoglobinaemia without mental retardation were found to be homozygous for NADH diaphorase deficiency. Twelve family members were heterozygous. One of the probands had marked digital clubbing, an unusual feature in this disease. In the probands, the red-cell NADH diaphorase was very low and unstable, whereas in the leucocytes this enzyme was present at a normal level. Isoelectric focusing of haemoglobin in the three probands showed that the alpha-chain was preferentially oxidized spontaneously. This confirms the greater oxidizability of this chain, as already described on isolated chains.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0001-5792
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
174-82
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Congenital enzymopenic methaemoglobinaemia. Clinical and biochemical study of a family with three homozygotes.
pubmed:publicationType
Journal Article, Case Reports