ArticleClinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease.
Article in Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- When Low Bone Mineral Density and Fractures Is Not Osteoporosis.Current osteoporosis reports · 2019Review
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Abstract
Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures. We wanted to present this case to raise awareness of GD's skeletal involvement and effects of late diagnosis.
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