Hurler syndrome

(Redirected from Hurler-Pfaundler syndrome)
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Hurler Syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hurler Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

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CT

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Case #1

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

Synonyms and keywords: Alpha-L-iduronidase deficiency; Hurler-Pfaundler syndrome, Hurler-Hunter syndrome, Hunter’s syndrome, Johnie McL disease, Pfaundler-Hurler disease, Pfaundler-Hurler syndrome, Sheldon-Ellis syndrome, Thompson’s syndrome, Hurler's disease, Hurler's syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hurler syndrome 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

Case Studies

Case #1

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