Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

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State: Public
Version: Final published version
Serval ID
serval:BIB_3C9B6096429E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Journal
Orphanet Journal of Rare Diseases
Author(s)
Lindert U., Kraenzlin M., Campos-Xavier A.B., Baumgartner M.R., Bonafé L., Giunta C., Rohrbach M.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
10
Number
1
Pages
104
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
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.
Keywords
Amino Acids/urine, Biomarkers/urine, Humans, Mutation, Osteogenesis Imperfecta/genetics, Osteogenesis Imperfecta/urine
Pubmed
Web of science
Open Access
Yes
Create date
15/09/2015 16:27
Last modification date
20/08/2019 13:32
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