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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
The ketogenic diet is well established as therapy for intractable epilepsy. It should be considered first-line therapy in glucose… (More)
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Review
2006
Review
2006
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and… (More)
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2004
2004
OBJECTIVE The spontaneous second wind in myophosphorylase deficiency (MD, McArdle's disease) represents a transition from low to… (More)
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2000
2000
training on exercise capacity and gas exchange in patients with chronic heart derangements by physical training in chronic heart… (More)
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1998
1998
Muscle acidosis has been implicated as a major determinant of reflex sympathetic activation during exercise. To test this… (More)
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1995
1995
We investigated the effect of glucose infusion on adenosine triphosphate degradation in skeletal muscle of patients with glycogen… (More)
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1990
1990
A severe, progressive myopathy developed in an 11-year-old, phosphofructokinase (PFK)-deficient, male, English Springer Spaniel… (More)
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1987
1987
Human phosphofructokinase (PFK) exists in tetrameric isozymic forms, at least in vitro. Muscle and liver contain homotetramers M4… (More)
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1987
1987
To identify the mechanism of hyperuricemia in glycogen storage diseases (glycogenoses) that affect muscle, we studied the effects… (More)
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1985
1985
Mammalian phosphofructokinase (PFK; ATP:D-fructose-6-phosphate 1-phosphotransferase, EC 2.7.1.11) exists in multimolecular forms… (More)
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