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Glycogen Storage Disease Type VII

Known as: Tarui's Disease, Deficiency, Muscle Phosphofructokinase, Muscle Phosphofructokinase Deficiencies 
A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the… 
National Institutes of Health

Related topics

Related topics

16 relations
6-PhosphofructokinaseAnemia, HemolyticAutosomal recessive inheritanceFructose-1,6-Diphosphatase Deficiency

Broader (1)

Glycogen Storage Disease

Papers overview

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Highly Cited
1995
Highly Cited
1995
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
Human phosphofructokinase (PFK) is a tetrameric enzyme, encoded by muscle, liver, and platelet genes. Deficiency of muscle PFK… 
Highly Cited
1994
Highly Cited
1994
An oxidative defect in metabolic myopathies: Diagnosis by noninvasive tissue oximetry
Metabolic myopathies due to a variety of enzymatic deficiencies are well recognized. The dynamics of oxygen delivery and… 
Highly Cited
1991
Highly Cited
1991
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.
BACKGROUND The exercise capacity of patients with muscle phosphofructokinase deficiency is low and fluctuates from day to day… 
Review
1991
Review
1991
Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders
Phosphorus magnetic resonance spectroscopy monitors muscle energy metabolism by recording the ratio of phosphocreatine to… 
Highly Cited
1991
Highly Cited
1991
Exercise-induced muscle modifications: study of healthy subjects and patients with metabolic myopathies with MR imaging and P-31 spectroscopy.
Exercise-induced variations in proton signal intensity at magnetic resonance (MR) imaging and in intracellular pH were studied in… 
Highly Cited
1987
Highly Cited
1987
Muscle energy metabolism in human phosphofructokinase deficiency as recorded by 31P nuclear magnetic resonance spectroscopy
31P nuclear magnetic resonance studies of a patient with phosphofructokinase deficiency in muscle provided the following new… 
Highly Cited
1982
Highly Cited
1982
CLINICAL USE OF NUCLEAR MAGNETIC RESONANCE IN THE INVESTIGATION OF MYOPATHY
Highly Cited
1969
Highly Cited
1969
Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency.
Highly Cited
1967
Highly Cited
1967
Muscle phosphofructokinase deficiency.
The clinical hallmarks of muscle phosphorylase deficiency (McArdle's disease) are muscle cramps and exercise intolerance… 
Highly Cited
1965
Highly Cited
1965
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.
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