Pubblicazioni

Autori:

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

Titolo:

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

Anno:

2015

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

Calcified Tissue International

ISSN Rivista:

0171-967X

N° Volume:

96

Numero o Fascicolo:

6

Intervallo pagine:

575-579

Parole chiave:

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

Breve descrizione dei contenuti:

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.

Pagina Web:

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

Id prodotto:

87929

Handle IRIS:

11562/926324

ultima modifica:

15 novembre 2022

Citazione bibliografica:

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