Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Medicin og biovidenskab

• Type IXD Glycogen Storage Disease 100%
• Exercise 29%
• Glycogenolysis 20%
• Creatine Kinase 15%
• Glycogen 15%
• Forearm 14%
• Muscle Form Glycogen Phosphorylase 14%
• Muscles 13%
• Lactic Acid 13%
• Phosphorylase Kinase 11%
• Glycogen Storage Disease 10%
• Asymptomatic Diseases 9%
• Nonsense Codon 8%
• Ammonia 8%
• Adenosine Monophosphate 8%
• Oxygen Consumption 7%
• Exercise Test 7%
• Hydroxymethylglutaryl-CoA Reductase Inhibitors 7%
• Carbohydrates 6%
• Fats 5%
• Healthy Volunteers 5%
• Glucose 4%
• Phenotype 4%
• Pain 4%
• Genes 3%
• Therapeutics 1%