Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several features of Gaucher disease have been described related to an experience gained from a study of 275 patients. These include splenic nodules, a nodular form of cirrhosis affecting the liver of patients who have severe disease as well as unsuspected involvement of the brain. The anatomic distribution of Gaucher cells in the brain may be an age related phenomenon. Various types of involvement of the lungs can produce severe cyanosis or cor pulmonale according to the anatomic distribution of the Gaucher cells. The belief that bone disease can be produced by prior splenectomy was dispelled by a study of 239 patients with type I and type III disease. The reasons for the association of malignant tumors with older patients who have type I disease is not understood but should encourage careful follow-up of these patients. As we enter the second century of our knowledge of this disease we should keep Dr. Gaucher's talent of making careful clinicopathological observations in mind as we search for clues to the better understanding of the various clinical forms of the disease.
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PMID:The pathology of Gaucher disease. 712 34