Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta

[1]  M. Barbagallo,et al.  Collagen overglycosylation: a biochemical feature that may contribute to bone quality. , 2005, Biochemical and biophysical research communications.

[2]  R. Bank,et al.  Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 , 2004, American journal of medical genetics. Part A.

[3]  S. Adami,et al.  Bone turnover markers in patients with osteogenesis imperfecta. , 2004, Bone.

[4]  R. Engelbert,et al.  The Interaction Between Sillence Type and BMD in Osteogenesis Imperfecta , 2003, Calcified Tissue International.

[5]  F. Glorieux,et al.  Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. , 2002, Bone.

[6]  F. Glorieux,et al.  Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[7]  F. Glorieux,et al.  Thirty‐three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I‐IV , 2001, Human mutation.

[8]  F. Glorieux,et al.  Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease , 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[9]  R. Bank,et al.  Pyridinium Cross‐Links in Bone of Patients with Osteogenesis Imperfecta: Evidence of a Normal Intrafibrillar Collagen Packing , 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[10]  P. Delmas,et al.  Racemization and isomerization of type I collagen C-telopeptides in human bone and soft tissues: assessment of tissue turnover. , 2000, The Biochemical journal.

[11]  C. Fledelius,et al.  Collagen fragments in urine derived from bone resorption are highly racemized and isomerized: a biological clock of protein aging with clinical potential. , 2000, The Biochemical journal.

[12]  A. Juul,et al.  Collagen‐derived markers of bone metabolism in osteogenesis imperfecta , 1998, Acta paediatrica.

[13]  S. Mora,et al.  Urinary Markers of Bone Turnover in Healthy Children and Adolescents: Age-Related Changes and Effect of Puberty , 1998, Calcified Tissue International.

[14]  H. Minaguchi,et al.  Differences in Bone Resorption after Menopause in Japanese Women with Normal or Low Bone Mineral Density: Quantitation of Urinary Cross-Linked N-Telopeptides , 1998, Calcified Tissue International.

[15]  P. Qvist,et al.  Characterization of Urinary Degradation Products Derived from Type I Collagen , 1997, The Journal of Biological Chemistry.

[16]  H. Tanaka,et al.  Urinary pyridinoline and deoxypyridinoline in healthy children and in children with growth hormone deficiency. , 1995, The Journal of clinical endocrinology and metabolism.

[17]  C. Christiansen,et al.  Immunoassay for quantifying type I collagen degradation products in urine evaluated. , 1994, Clinical chemistry.

[18]  P. Delmas,et al.  Assessment of bone resorption with a new marker of collagen degradation in patients with metabolic bone disease. , 1994, The Journal of clinical endocrinology and metabolism.

[19]  J. Ittner,et al.  Serum concentrations of procollagen I C‐terminal propeptide, osteocalcin and insulin‐like growth factor‐I in patients with non‐lethal osteogenesis irnperfecta , 1993, Acta paediatrica.

[20]  D. Eyre,et al.  A specific immunoassay for monitoring human bone resorption: Quantitation of type I collagen cross‐linked N‐telopeptides in urine , 1992, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[21]  C. Mathew,et al.  Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. , 1990, American journal of human genetics.

[22]  P. Byers,et al.  Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. , 1989, The Journal of clinical investigation.

[23]  D. Sillence,et al.  Genetic heterogeneity in osteogenesis imperfecta. , 1979, Journal of medical genetics.

[24]  A. Williams,et al.  Urinary Total Hydroxyproline: Creatinine Ratio , 1972, Archives of disease in childhood.

[25]  Masao Fukunaga,et al.  Guidelines for the use of biochemical markers of bone turnover in osteoporosis (2004) , 2004, Journal of Bone and Mineral Metabolism.

[26]  L. Ala‐Kokko,et al.  Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. , 1998, American journal of human genetics.

[27]  D. Eyre,et al.  Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides. , 1994, Bone.

[28]  P. Esposito,et al.  Osteogenesis Imperfecta. , 1928, Proceedings of the Royal Society of Medicine.