Homocystinuria
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Homocystinuria Microchapters |
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Diagnosis |
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Case Studies |
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Homocystinuria On the Web |
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American Roentgen Ray Society Images of Homocystinuria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Synonyms and keywords: CBS deficiency; cystathionine beta-synthase deficiency
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Homocystinuria from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
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