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BURDEN OF DISEASE

Rare diseases

Lysosomal storage diseases

Gaucher disease

• Gaucher disease Type 1
• Gaucher disease Type 2
• Gaucher disease Type 3

Genetic inheritance of Gaucher disease

Epidemiology of Gaucher disease

• Gaucher disease in the Ashkenazi Jewish population
• Age at disease onset and life expectancy

Comorbidities

• Haematological malignancies
• Neurological disorders
• Metabolic disorders
• Immunological disorders
• Gastrointestinal disorders

Gaucher disease and quality of life

DIFFERENTIAL DIAGNOSIS

Signs and symptoms of Gaucher disease

Getting the diagnosis right

Diagnosis of Gaucher disease

• Diagnostic algorithms
• Disease severity indexes
• Glucocerebrosidase
• Glucosylsphingosine (lyso-Gb1)
• Chitotriosidase
• CC chemokine ligand 18 (CCL18)
• Diagnostic imaging
• Carrier testing and prenatal and newborn screening

DISEASE MANAGEMENT

Patient-centric management

• Management of Gaucher disease Type 1
• Management of Gaucher disease Types 2 and 3
• Pregnancy and Gaucher disease
• Support and counselling for Gaucher disease

Enzyme replacement therapy

• Imiglucerase
• Velaglucerase alfa
• Taliglucerase alfa

Substrate reduction therapy

• Miglustat
• Eliglustat

MEETINGS & EVENTS

• Key congress calendar 2022

TAKEDA'S COMMITMENT TO RARE DISEASES

GAUCHER DISEASE RESOURCES BY TAKEDA

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