Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.

doi:10.1001/archinte.158.16.1754

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Article

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.

Archives of internal medicine - 14 Sept 1998

Charrow J, Esplin J A, Gribble T J, Kaplan P, Kolodny E H, Pastores G M, Scott C R, Wappner R S, Weinreb N J, Wisch J S

Abstract excerpt

BACKGROUND: Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and visceral organ involvement can lead to abdominal pain and secondary hematologic and biochemical complications. OBJECTIVE: To...

Topics

Bone and Bones
Gaucher Disease
Glucosylceramidase
Humans
Mutation

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