Publications

Authors:

Franceschi, Roberto; Vincenzi, Monica; Camilot, Marta; Antoniazzi, Franco; Freemont, Anthony J; Adams, Judith E; Laine, Christine; Makitie, Outi; Mughal, M. Zulf

Title:

Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes

Year:

2015

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

Calcified Tissue International

ISSN of journal:

0171-967X

N° Volume:

96

Number or Folder:

6

Page numbers:

575-579

Keyword:

Idiopathic Juvenile Osteoporosis, LRP5, LRP6, bone biopsy, bone mineral density.

Short description of contents:

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.

Web page:

http://link.springer.com/article/10.1007%2Fs00223-015-9983-7

Product ID:

87929

Handle IRIS:

11562/926324

Last Modified:

November 15, 2022

Bibliographic citation:

Franceschi, Roberto; Vincenzi, Monica; Camilot, Marta; Antoniazzi, Franco; Freemont, Anthony J; Adams, Judith E; Laine, Christine; Makitie, Outi; Mughal, M. Zulf, Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes «Calcified Tissue International» , vol. 96 , n. 6 , 2015 , pp. 575-579

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo