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Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study

BACKGROUND: Gait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis. While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutra...

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Detalles Bibliográficos
Autores principales: Mindler, Gabriel T., Stauffer, Alexandra, Kranzl, Andreas, Penzkofer, Stefan, Ganger, Rudolf, Radler, Christof, Haeusler, Gabriele, Raimann, Adalbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987359/
https://www.ncbi.nlm.nih.gov/pubmed/35399930
http://dx.doi.org/10.3389/fendo.2022.866170