Homocystinuria

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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

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Treatment

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Case Studies

Case #1

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on Homocystinuria

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Risk calculators and risk factors for Homocystinuria

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Articles

Most recent articles on Homocystinuria

Most cited articles on Homocystinuria

Review articles on Homocystinuria

Articles on Homocystinuria in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Homocystinuria

Images of Homocystinuria

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Evidence Based Medicine

Cochrane Collaboration on Homocystinuria

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Clinical Trials

Ongoing Trials on Homocystinuria at Clinical Trials.gov

Trial results on Homocystinuria

Clinical Trials on Homocystinuria at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Homocystinuria

NICE Guidance on Homocystinuria

NHS PRODIGY Guidance

FDA on Homocystinuria

CDC on Homocystinuria

Books

Books on Homocystinuria

News

Homocystinuria in the news

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Blogs on Homocystinuria

Definitions

Definitions of Homocystinuria

Patient Resources / Community

Patient resources on Homocystinuria

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Directions to Hospitals Treating Homocystinuria

Risk calculators and risk factors for Homocystinuria

Healthcare Provider Resources

Symptoms of Homocystinuria

Causes & Risk Factors for Homocystinuria

Diagnostic studies for Homocystinuria

Treatment of Homocystinuria

Continuing Medical Education (CME)

CME Programs on Homocystinuria

International

Homocystinuria en Espanol

Homocystinuria en Francais

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Homocystinuria in the Marketplace

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Experimental / Informatics

List of terms related to 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

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | CT | 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

References

See also

External links

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