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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1984-1-27
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0040-8727
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
141
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
287-93
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:6228037-Adult,
pubmed-meshheading:6228037-Anemia, Hemolytic, Congenital,
pubmed-meshheading:6228037-Anemia, Hemolytic, Congenital Nonspherocytic,
pubmed-meshheading:6228037-Humans,
pubmed-meshheading:6228037-Male,
pubmed-meshheading:6228037-Microscopy, Electron,
pubmed-meshheading:6228037-Muscles,
pubmed-meshheading:6228037-Muscular Diseases,
pubmed-meshheading:6228037-Phosphofructokinase-1
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pubmed:year |
1983
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pubmed:articleTitle |
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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