title: Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
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.
authors: Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland. Uschi.Lindert@kispi.uzh.ch.
authors: Uschi
authors: U
authors: Lindert
authors: Clinic for Endocrinology, Diabetology and Metabolism, University Hospital, Basel, Switzerland. marius.kraenzlin@unibas.ch.
authors: Marius
authors: M
authors: Kraenzlin
authors: Center for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland. belinda.xavier@chuv.ch.
authors: Ana Belinda
authors: AB
authors: Campos-Xavier
authors: Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland. Matthias.Baumgartner@kispi.uzh.ch.
authors: Matthias R
authors: MR
authors: Baumgartner
authors: Center for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland. luisa.bonafe@chuv.ch.
authors: Luisa
authors: L
authors: Bonafé
authors: Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland. Cecilia.Giunta@kispi.uzh.ch.
authors: Cecilia
authors: C
authors: Giunta
authors: Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland. Marianne.Rohrbach@kispi.uzh.ch.
authors: Marianne
authors: M
authors: Rohrbach
mesh_terms: D000596:Amino Acids / Q000652:urine*; D015415:Biomarkers / Q000652:urine*; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000652:urine*
chemical_list: D000596:Amino Acids; D015415:Biomarkers; C015484:pyridinoline