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BioMed Central, Orphanet Journal of Rare Diseases, 1(10), 2015

DOI: 10.1186/s13023-015-0315-9

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Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Journal article published in 2015 by Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, Matthias R. Baumgartner ORCID, Luisa Bonafé, Cecilia Giunta, Marianne Rohrbach ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.