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Clinical Cases in mineral and bone metabolism

Multiple hereditary exostoses: metabolic diagnostics and use of anti-fracture therapy

Original Article, 235 - 241
doi: 10.11138/ccmbm/2018.15.2.235
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Abstract
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Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences.
The International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRD-WG) (1) has recently published a metabolic classification of bone rare diseases.
Multiple hereditary exostoses (MHE) is a rare, pediatric, and autosomal dominant musculoskeletal disorder. A metabolic approach to the rare skeletal diseases may be useful for bone specialists to value the diagnostic role of biochemical alterations, with the potential to improve the knowledge on the etiology of rare bone disorders, opening new avenues towards targeted therapies (1). A multidisciplinary approach could be important to better understand the complexity and the pathogenesis of bone involvement MHE.

Vol. XV (No. 3) 2018 September - December

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    doi: 10.11138/ccmbm/2018.15.2.235
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