The importance of early diagnosis of X-linked hypophosphatemic rickets: a case report
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of vitamin D activation. Children with XLH show...
Saved in:
Main Authors: | Francesca Franchina, Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica |
---|---|
Format: | Article |
Language: | English |
Published: |
Accademia Peloritana dei Pericolanti
2024-07-01
|
Series: | Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche |
Subjects: | |
Online Access: | https://cab.unime.it/journals/index.php/APMB/article/view/4280 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report
by: Anna S. Nechaeva, et al.
Published: (2025-02-01) -
Comprehensive dental examination and management of a patient with X-linked hypophosphatemic rickets
Published: (2020-03-01) -
HYPOPHOSPHATEMIC RICKETS
by: N. N. Kartamysheva, et al.
Published: (2013-07-01) -
Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.
by: Ylenia Giorgianni, et al.
Published: (2024-07-01) -
Rickets in premature children: non-classic form of rickets
by: V. M. Studenikin
Published: (2021-06-01)