Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year old with type 3 GD, chronically treated with enzym...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2015-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426915300434 |
| _version_ | 1819262350306312192 |
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| author | Enock Teefe Jenny Kim Grisel Lopez Ellen Sidransky |
| author_facet | Enock Teefe Jenny Kim Grisel Lopez Ellen Sidransky |
| author_sort | Enock Teefe |
| collection | DOAJ |
| description | Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era. |
| first_indexed | 2024-12-23T19:56:18Z |
| format | Article |
| id | doaj.art-962972fb9b2441ebac14d9639f07db0d |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-23T19:56:18Z |
| publishDate | 2015-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-962972fb9b2441ebac14d9639f07db0d2022-12-21T17:33:14ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-12-015C10710910.1016/j.ymgmr.2015.10.008Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher diseaseEnock TeefeJenny KimGrisel LopezEllen SidranskyType 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era.http://www.sciencedirect.com/science/article/pii/S2214426915300434Gaucher diseaseEnzyme replacement therapyOsteolytic lesionsGlucocerebrosidase |
| spellingShingle | Enock Teefe Jenny Kim Grisel Lopez Ellen Sidransky Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease Molecular Genetics and Metabolism Reports Gaucher disease Enzyme replacement therapy Osteolytic lesions Glucocerebrosidase |
| title | Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease |
| title_full | Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease |
| title_fullStr | Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease |
| title_full_unstemmed | Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease |
| title_short | Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease |
| title_sort | bilateral femoral osteolytic lesions in a patient with type 3 gaucher disease |
| topic | Gaucher disease Enzyme replacement therapy Osteolytic lesions Glucocerebrosidase |
| url | http://www.sciencedirect.com/science/article/pii/S2214426915300434 |
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