Janke, M; Börner, M; Mueller-Garamvölgyi, E; Hess, R (2008). [A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus]. Orthopäde, 37(3), 251-2, 254. Heidelberg: Springer-Verlag 10.1007/s00132-008-1197-5
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We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If there is cause for suspicion, beta-glucocerebrosidase in white blood cells should be measured because of the important consequences for treatment. Therapy with a modified enzyme is effective in managing the disease.
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Orthopaedic, Plastic and Hand Surgery (DOPH) > Clinic of Orthopaedic Surgery 04 Faculty of Medicine > Service Sector > Institute of Pathology |
UniBE Contributor: |
Janke, Markus, Mueller, Esther |
ISSN: |
0085-4530 |
ISBN: |
18251007 |
Publisher: |
Springer-Verlag |
Language: |
German |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 15:03 |
Last Modified: |
05 Dec 2022 14:19 |
Publisher DOI: |
10.1007/s00132-008-1197-5 |
PubMed ID: |
18251007 |
Web of Science ID: |
000253993700009 |
BORIS DOI: |
10.7892/boris.27457 |
URI: |
https://boris.unibe.ch/id/eprint/27457 (FactScience: 107736) |
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