Glycogen storage disease type II
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Differentiating Glycogen storage disease type II from other Diseases |
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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.
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Glycogen storage disease type II from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
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