Diagnosis of Pompe disease: Muscle Biopsy vs Blood-Based Assays

Medicin og biovidenskab

• Glycogen Storage Disease Type II 100%
• Biopsy 42%
• Muscles 41%
• Late Onset Disorders 37%
• Vacuolar myopathy 12%
• Glucosidases 10%
• Enzyme Replacement Therapy 9%
• Neuromuscular Diseases 8%
• Periodic Acid 8%
• Enzyme Assays 7%
• Creatine Kinase 7%
• Standard of Care 6%
• Signs and Symptoms 6%
• Differential Diagnosis 5%
• Phenotype 4%
• Serum 3%
• Child 3%
• Therapeutics 1%