Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Medicin og biovidenskab

• Phosphoglycerate Kinase 1 Deficiency 100%
• Phenotype 31%
• Enzymes 28%
• Muscular Diseases 20%
• Phosphoglycerate Kinase 19%
• Exercise Test 12%
• Muscles 11%
• Myoglobinuria 9%
• Ergometry 8%
• Exercise 8%
• Rhabdomyolysis 8%
• Exercise Tolerance 7%
• Glycolysis 6%
• Forearm 6%
• Intellectual Disability 6%
• Muscle Cells 5%
• Lactic Acid 5%
• Anemia 5%
• Clinical Studies 4%