Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review

X-linked hypophosphatemia (XLH) or vitamin D-resistant rickets (MIM#307800), is a monogenic disorder with X-linked inheritance. It is caused by mutations present in the Phosphate Regulating Endopeptidase Homolog X-Linked (PHEX) gene responsible for the degradation of the bone-derived hormone fibrobl...

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Detalles Bibliográficos
Autores principales: Jurca, Claudia Maria, Iuhas, Oana, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Bembea, Marius, Jurca, Sanziana, Paul, Corina, Jurca, Alexandru Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407333/
https://www.ncbi.nlm.nih.gov/pubmed/36011303
http://dx.doi.org/10.3390/genes13081392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407333/
https://www.ncbi.nlm.nih.gov/pubmed/36011303
http://dx.doi.org/10.3390/genes13081392

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