Galactosemia
(Redirected from Galactose-1-phosphate uridyltransferase deficiency)
Galactosemia Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Galactosemia On the Web |
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Synonyms and keywords: Classic galactosemia, galactokinase deficiency
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Galactosemia from other Diseases
Epidemiology and Demographics
Screening
Risk factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings |Electrocardiography| Chest XRay| CT Scan| MRI|Echocardiography and Ultrasound| Other Imaging| Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies