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Bone fragility in patients affected by congenital diseases non skeletal in origin

ContributorsMasi, L.; Ferrari, Serge Livio; Javaid, M. K.; Papapoulos, S.; Pierroz, D. D.; Brandi, M. L.; IOF Skeletal Rare Diseases Working Group
Published inOrphanet Journal of Rare Diseases, vol. 16, no. 1, 11
Publication date2021
Abstract

Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, several non-skeletal diseases may influence bone metabolism. It is of a crucial importance to classify these disorders in order to facilitate diagnosis and clinical management. This article reports a taxonomic classification of non-skeletal rare congenital disorders, which have an impact on bone metabolism

Keywords
  • Bone metabolism
  • Genetic bone diseases
  • Metabolic bone diseases
  • Non-skeletal rare congenital disorders
  • Taxonomy
Citation (ISO format)
MASI, L. et al. Bone fragility in patients affected by congenital diseases non skeletal in origin. In: Orphanet Journal of Rare Diseases, 2021, vol. 16, n° 1, p. 11. doi: 10.1186/s13023-020-01611-5
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ISSN of the journal1750-1172
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Technical informations

Creation01/18/2021 11:43:00 AM
First validation01/18/2021 11:43:00 AM
Update time03/16/2023 12:36:49 AM
Status update03/16/2023 12:36:48 AM
Last indexation02/12/2024 12:05:56 PM
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