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Glycogen storage disease type II


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Synonyms and keywords: Glycogen storage disease type 2; Pompe disease; acid maltase deficiency; glycogenosis type 2; alpha-1, 4-glucosidase deficiency; GSD II; GSD type 2; acid alpha-glucosidase deficiency; GAA deficiency; Generalized cardiac form glycogenosis; Cardiomegalia glycogenica diffusa.

Diagnosis

Diagnostic study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1 it:morbo di Pompe de:Morbus Pompe


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