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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2015

Open Access 01-12-2015 | Letter to the Editor

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Authors: Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, Matthias R. Baumgartner, Luisa Bonafé, Cecilia Giunta, Marianne Rohrbach

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

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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.
Literature
1.
Marini JC. Nelson textbook of pediatrics. Philadelphia: Saunders; 2004. p. 2336–38.
2.
Lindert U, Weis MA, Rai J, Seeliger F, Hausser I, Leeb T, et al. Molecular Consequences of Defective SERPINH1/HSP47 in the Dachshund Natural Model of Osteogenesis Imperfecta. J Biol Chem. 2015. doi:10.​1074/​jbc.​M115.​661025.PubMed
3.
4.
Steinmann B, Eyre DR, Shao P. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet. 1995;57(6):1505–8.PubMedCentralPubMed
5.
Metadata
Title
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Authors
Uschi Lindert
Marius Kraenzlin
Ana Belinda Campos-Xavier
Matthias R. Baumgartner
Luisa Bonafé
Cecilia Giunta
Marianne Rohrbach
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-015-0315-9

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