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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fibrous dysplasia of bone
Symptom C0029442|osteomalacia
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PubMedID- 22969139 Blood chemistry, showing high levels of alkaline phosphatase and pth, and a transiliac bone biopsy, indicating severe osteomalacia with osteitis fibrosa, along with serial computed tomography images of the hips from the presymptomatic stage, led to accurate diagnosis and successful treatment by administration of high-dose vitamin d.

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