454 top medical experts on Glycogen Storage Disease Type II across 36 countries and 32 U.S. states, including 327 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Glycogen Storage Disease Type II: An autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency. Large amounts of glycogen accumulate in the lysosomes of skeletal muscle (muscle, skeletal); heart; liver; spinal cord; and brain. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (cardiomyopathy, hypertrophic). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Glycogen Storage Disease (1,538), Nervous System Lysosomal Storage Diseases (88).
  4. Clinical Trials ClinicalTrials.gov : at least 131 including 13 Active, 54 Completed, 24 Recruiting
  5. Synonyms: Acid Maltase Deficiency Disease,  Generalized Glycogenosis,  Glycogenosis 2,  Lysosomal alpha-1,4-Glucosidase Deficiency Disease,  Pompe Disease


  

        

                    


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