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Gauchers disease

Background

Gaucher disease is an inherited metabolic condition. It is caused by a deficiency of an enzyme called glucocerebrosidase, which normally breaks down a fatty substance called glucocerebroside.

What are the symptoms? View What are the symptoms?

Medical text written December 2011 by C Hendriksz, Consultant in Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

 

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