provides a comprehensive look at
the who, what, when and how of Gaucher disease
< b>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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