Rickets, hypophosphatemic

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 ipofosfatemico X-linked e craniostenosi

V. Migliarino, A. Magnolato

2020/7 — pag. 461-463 — DOI

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 ...

RACHITISMI 2020: FACILI E DIFFICILI

E. Barbi

2020/7 — pag. 425 — DOI

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...

Trent’anni di “Medico e Bambino” nella storia della pediatria italiana I rachitismi ipofosfatemici Frustrazione e dipendenza o empowerment La questione delle polmoniti virali Allergie, terapie e....

2012/3 — pag. 150-152

Una bambina con scarsa crescita e segni clinici di rachitismo all’età di 2 anni

S. Pastore, F. Marchetti

2011/5 — pag. 301-305

This work describes the case of a 5-year-old girl who started showing clinical features typical of rickets at the age of 2. Nutritional deficiency rickets was diagnosed although vitamin D implementation therapy did not sort any improving effect. A ...

Fisiopatologia della vitamina D (Prima parte)

G. Bartolozzi

2007/9