Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
| Autor: | Matthias R. Baumgartner, Uschi Lindert, Marius E. Kraenzlin, Cecilia Giunta, Ana Belinda Campos-Xavier, Marianne Rohrbach, Luisa Bonafé |
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| Přispěvatelé: | University of Zurich, Giunta, Cecilia |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
LP/HP ratio
medicine.medical_specialty 2716 Genetics (clinical) Amino Acids/urine Biomarkers/urine Humans Mutation Osteogenesis Imperfecta/genetics Osteogenesis Imperfecta/urine Urinary system Non-accidental injury Connective tissue 610 Medicine & health Bioinformatics chemistry.chemical_compound Molecular genetics medicine 2736 Pharmacology (medical) Genetics(clinical) Pharmacology (medical) Amino Acids Letter to the Editor Genetics (clinical) Medicine(all) Pyridinoline business.industry General Medicine Biomarker medicine.disease Human genetics Urinary pyridinoline cross-links 3. Good health Pyridinoline cross-links medicine.anatomical_structure chemistry Osteogenesis imperfecta 10036 Medical Clinic Biomarker (medicine) Collagen business Mutations Biomarkers |
| Zdroj: | Orphanet Journal of Rare Diseases Orphanet journal of rare diseases Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 104 |
| ISSN: | 1750-1172 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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