Ontology type: schema:ScholarlyArticle
2000-09
AUTHORSL. W. Poll, J.-A. Koch, S. vom Dahl, E. Loxtermann, M. Sarbia, C. Niederau, D. Häussinger, U. Mödder
ABSTRACT. Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease. More... »
PAGES1660-1663
http://scigraph.springernature.com/pub.10.1007/s003300000446
DOIhttp://dx.doi.org/10.1007/s003300000446
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/11044944
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