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.

Overview[edit | edit source]

Historical Perspective[edit | edit source]

Classification[edit | edit source]

Pathophysiology[edit | edit source]

Causes[edit | edit source]

Differentiating Glycogen storage disease type II from other Diseases[edit | edit source]

Epidemiology and Demographics[edit | edit source]

Risk Factors[edit | edit source]

Screening[edit | edit source]

Natural History, Complications and Prognosis[edit | edit source]

Diagnosis[edit | edit source]

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[edit | edit source]

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

Case Studies[edit | edit source]

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

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