Galactosemia

Galactosemia Microchapters
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Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Galactosemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
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Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Galactosemia On the Web
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American Roentgen Ray Society Images of Galactosemia All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Galactosemia
CDC on Galactosemia
Galactosemia in the news
Blogs on Galactosemia
Directions to Hospitals Treating Galactosemia
Risk calculators and risk factors for Galactosemia

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

Synonyms and keywords: Classic galactosemia, galactokinase deficiency

Case Studies

Case #1