Glycogen storage disease type I

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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.[2]

Synonyms and Keywords: Glucose-6-phosphatase deficiency; Glycogen storage disease type 1; Glycogenosis type 1; von Gierke's disease; GSD type 1; Hepatorenal form of GSD; Hepatorenal glycogenosis

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glycogen storage disease type I from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostoc Study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | 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

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