Tag: Norrbottnian Gaucher Disease

Norrbottnian Gaucher Disease: Definition and Description of Norrbottnian Gaucher Disease: Norrbottnian Gaucher Disease is a rare genetic disorder, a variant of Gaucher disease, characterized by the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of fatty substances in various organs, notably the spleen, liver, bones, and bone marrow. It is named after the…