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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Bibliographic Details
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
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Online Access:https://cab.unime.it/journals/index.php/APMB/article/view/4280
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