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...
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| Main Authors: | Francesca Franchina, Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica |
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| Format: | Article |
| Language: | English |
| Published: |
Accademia Peloritana dei Pericolanti
2024-07-01
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| 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 |
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