Phenylketonuria

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Phenylketonuria Microchapters

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Patient Information

Overview

Historical Perspective

Pathophysiology

Classification

Causes

Screening

Differentiating Phenylketonuria from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Phenylketonuria On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

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American Roentgen Ray Society Images of Phenylketonuria

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Ultrasound Echo & Ultrasound
CT CT Images
MRI MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Phenylketonuria

CDC on Phenylketonuria

Phenylketonuria in the news

Blogs on Phenylketonuria

Directions to Hospitals Treating Phenylketonuria

Risk calculators and risk factors for Phenylketonuria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and Keywords: PKU; Maternal PKU, Maternal phenylketonuria; Classic PKU; Classic phenylketonuria

Overview

Historical Perspective

Pathophysiology

Classification

Causes

Differentiating Phenylketonuria from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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