๐”– Bobbio Scriptorium
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Brittle bone disease: A case report

โœ Scribed by Lasmar, Rodrigo Pace; Vieira, Jorge Suman; Marques, Rafael Pereira; Marques, Josiane Neves Coelho


Book ID
122283106
Publisher
Georg Thieme Verlag KG
Year
2013
Tongue
English
Weight
456 KB
Volume
48
Category
Article
ISSN
2255-4971

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Adult-onset, or type 1, Gaucher's disease is an autosomal disorder, characterized by deficiency of a lysosomal enzyme, p-glucocerebrosidase. This results in the accumulation of a glycolipid, glucosylceramide, in distinctive "foam" cells which are seen in the bone marrow, reticuloendothelial tissue,