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2015
- doi: 10.1186/s13023-015-0315-9
- issn: 1750-1172
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Osteopsathyrosis Osteogenesis imperfecta congenita Osteogenesis imperfecta tarda Lobstein's disease Fragilitas ossium Brittle bonesCiter ce document
U. Lindert et al., « Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta. », Serveur académique Lausannois, ID : 10.1186/s13023-015-0315-9
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Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consuming and cost-intensive biochemical and molecular genetics analyses. Therefore, it is desirable to identify and establish new diagnostic markers for OI that are reliable, cost-effective and easily accessible. In our study we have identified the ratio of the urinary pyridinoline cross-links lysyl-pyridinoline and hydroxylysyl-pyridinoline as a promising, time- and cost-effective biomarker for osteogenesis imperfecta, that could be used furthermore to investigate cases of suspected non-accidental injury in infants.