Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

FGF23

2 articoli — 2020-2024

RI Com'è andata a finire
Un varismo che fa rima con…

Zampieri A, Corona F, Magnolato A, Barbi E.

2024/6 — pag. 383-385 — DOI

The paper reports the case of a 1-year-old girl with evident genu varum, frontal bossing, anterior bowing of tibia and mother’s history of short stature treated in infancy with GH. Biochemical findings show increased alkaline phosphatase and hypophos...

RI Focus
Rachitismo ipofosforemico X-linked

L. Lucchetti, D. Fintini, M. Cappa, F. Emma

2020/7 — pag. 430-436 — DOI

X-linked hypophosphatemia (XLH) is an X-linked disorder with dominant penetration, caused by mutations in the PHEX gene, which encodes for an endopeptidase that is predominantly expressed in osteoblasts, osteocytes and odontoblasts. PHEX mutations ...

Argomenti correlati
Vitamin D (60) rickets (59) rachitismo (36) Alkaline Phosphatase (19) Genes, X-Linked (14) Nephrocalcinosis (12) Antibodies, Monoclonal, Humanized (12) Bone Diseases, Metabolic (12) Nefrocalcinosi (11) Rickets, Hypophosphatemic (8) Skeletal dysplasia (8) genu varum (7) osteomalacia (7) Hypophosphatemic rickets (6) Hypophosphatemia (5) Rachitismo ipofosfatemico (4) Fibroblast Growth Factor-23 (4) ipofosfatemia (4) Burosumab (3) Familial Hypophosphatemia (3)