Gaucher disease: A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner.
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National Gaucher Foundation, a non-profit, dedicated to promoting education, awareness and treatment of Gaucher Disease.
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.
Gaucher's Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
What is Gaucher Disease? How common is Gaucher disease? What genes are related to Gaucher disease? How do people inherit Gaucher disease? Where can I find information about ...
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among ...