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Rare Case of Gaucher’s Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report
INTRODUCTION: Gaucher’s disease is a congenital lysosomal storage disorder caused by an autosomal recessive mutation in B-glucocerebrosidase. It is a multi-system disease, wherein patients present with hematological abnormalities, joint pain, osteonecrosis, and developmental delay. We present a case...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Indian Orthopaedic Research Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499049/ https://www.ncbi.nlm.nih.gov/pubmed/36199916 http://dx.doi.org/10.13107/jocr.2022.v12.i03.2720 |