Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
| LEADER | caa a22 4500 | ||
|---|---|---|---|
| 001 | 605521166 | ||
| 003 | CHVBK | ||
| 005 | 20210128100738.0 | ||
| 007 | cr unu---uuuuu | ||
| 008 | 210128e20150601xx s 000 0 eng | ||
| 024 | 7 | 0 | |a 10.1007/s00223-015-9983-7 |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s00223-015-9983-7 | ||
| 245 | 0 | 0 | |a Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes |h [Elektronische Daten] |c [Roberto Franceschi, Monica Vincenzi, Marta Camilot, Franco Antoniazzi, Anthony Freemont, Judith Adams, Christine Laine, Outi Makitie, M. Mughal] |
| 520 | 3 | |a We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption. No mutations in LRP5 and LRP6 could be identified. IJO is likely to be a heterogeneous bone disorder, and next-generation genomic sequencing studies may help reveal causative genes. | |
| 540 | |a Springer Science+Business Media New York, 2015 | ||
| 690 | 7 | |a Idiopathic juvenile osteoporosis |2 nationallicence | |
| 690 | 7 | |a QCT |2 nationallicence | |
| 690 | 7 | |a Bone biopsy |2 nationallicence | |
| 690 | 7 | |a LRP5 |2 nationallicence | |
| 690 | 7 | |a LRP6 |2 nationallicence | |
| 700 | 1 | |a Franceschi |D Roberto |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | |
| 700 | 1 | |a Vincenzi |D Monica |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | |
| 700 | 1 | |a Camilot |D Marta |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | |
| 700 | 1 | |a Antoniazzi |D Franco |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | |
| 700 | 1 | |a Freemont |D Anthony |u Department of Osteoarticular Pathology, University of Manchester, Manchester, UK |4 aut | |
| 700 | 1 | |a Adams |D Judith |u Imaging Science and Biomedical Engineering, University of Manchester, Manchester, UK |4 aut | |
| 700 | 1 | |a Laine |D Christine |u Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland |4 aut | |
| 700 | 1 | |a Makitie |D Outi |u Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland |4 aut | |
| 700 | 1 | |a Mughal |D M. |u Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK |4 aut | |
| 773 | 0 | |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/6(2015-06-01), 575-579 |x 0171-967X |q 96:6<575 |1 2015 |2 96 |o 223 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00223-015-9983-7 |q text/html |z Onlinezugriff via DOI |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 908 | |D 1 |a research-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s00223-015-9983-7 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Franceschi |D Roberto |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Vincenzi |D Monica |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Camilot |D Marta |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Antoniazzi |D Franco |u Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Freemont |D Anthony |u Department of Osteoarticular Pathology, University of Manchester, Manchester, UK |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Adams |D Judith |u Imaging Science and Biomedical Engineering, University of Manchester, Manchester, UK |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Laine |D Christine |u Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Makitie |D Outi |u Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mughal |D M. |u Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/6(2015-06-01), 575-579 |x 0171-967X |q 96:6<575 |1 2015 |2 96 |o 223 | ||