Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1984-1-27
pubmed:abstractText
Enzymatic and electron microscopical studies were performed on the muscle of a proband with phosphofructokinase deficiency. Enzymatic studies showed that muscle phosphofructokinase activity of the proband was decreased to about a half of normal. This enzyme was quite thermolabile and had low affinity for fructose 6-phosphate. Electron microscopical studies showed the accumulation of glycogen granules beneath the sarcolemma and between the myofibrils in spite of a lack of accumulation of the intermediates before the step of phosphofructokinase. The proband's clinical symptoms, i.e., hemolytic anemia and myopathy, were considered to be due to the unstable, mutant, muscle-type phosphofructokinase in the red blood cells and muscle.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0040-8727
pubmed:author
pubmed:issnType
Print
pubmed:volume
141
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
287-93
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't