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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...
Autores principales: | Jurca, Claudia Maria, Iuhas, Oana, Kozma, Kinga, Petchesi, Codruta Diana, Zaha, Dana Carmen, Bembea, Marius, Jurca, Sanziana, Paul, Corina, Jurca, Alexandru Daniel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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