X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets. Short stature, limb deformities, dental anomalies, craniosynostos...

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Bibliographic Details
Main Authors: Isabel Rodrigues Leal Moitinho de Almeida, Ana Catarina Barbosa Rodrigues, Ana Patrícia Costa-Reis, Maria Rosário Arriaga Câmara Stone
Format: Article
Language:English
Published: Publicações Ciência e Vida 2022-10-01
Series:Revista Portuguesa de Nefrologia e Hipertensão
Subjects:
antibodies
monoclonal
humanized/therapeutic use
burosumab
child
familial hypophosphatemic rickets/drug therapy
Online Access:https://cdn02.spnefro.pt/pjnh/85/Nefro363CASEREPORTXlinkedhypophosphatemicricketsFINALED.pdf

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https://cdn02.spnefro.pt/pjnh/85/Nefro363CASEREPORTXlinkedhypophosphatemicricketsFINALED.pdf

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