Hypophosphatemia

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...

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 ...

Rachitismo vitamina D-resistente: dalla clinica alla genetica, “andata e ritorno”

G.I. Baroncelli, B. Toschi, L. Cinquanta, P. Manfredi, A. Rossodivita, A. Michelucci, F. Baldinotti, S. Bertelloni

2013/2 — pag. 89-99

The term “vitamin D-resistant rickets” was used to describe a clinical condition which was indistinguishable from the common rickets except that the signs occurred in spite of adequate vitamin D treatment. Recent studies showed that vitamin D-resis...

Tutto su vitamina D, profilassi e terapia del rachitismoQuando dare la vitamina DProfilassi del rachitismo e prospettive di ulteriore impiego

S. Bassanese, S. Norbedo, C. Locatelli, M. Lazzerini, F. Marchetti

2004/8