Glycogen Storage Disease Type V

Known as: Syndromes, Mcardle, Glycogenosis 5s, disease mcardles 
An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Duchenne muscular dystrophy (DMD) is a severe muscle-degenerative disease caused by a mutation in the dystrophin gene. Genetic… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2009
Highly Cited
2009
Duchenne muscular dystrophy (DMD) is an X-linked, degenerative muscle disease that is exacerbated by secondary inflammation. Here… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling abnormal glycogen accumulate in several… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Glycogen synthase kinase 3 comprises two isoforms (GSK-3alpha and GSK-3beta) that are implicated in type II diabetes… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2007
Review
2007
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin… (More)
Is this relevant?
Review
2006
Review
2006
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease arising from defects in the dystrophin gene, typically… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1997
Highly Cited
1997
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that… (More)
  • figure 1
  • figure 3
  • table 1
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
1994
Highly Cited
1994
Increased plasma FFA reduce insulin-stimulated glucose uptake. The mechanisms responsible for this inhibition, however, remain… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 6
Is this relevant?
1985
1985
To investigate purine catabolism in exercising muscles of patients with muscle glycogen storage disease, we performed ischemic… (More)
  • figure 1
  • table I
  • figure 2
  • table II
  • figure 3
Is this relevant?