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of 3
pro vyhledávání: '"Stefan Penzkofer"'
Autor:
Alexandra Stauffer, Adalbert Raimann, Stefan Penzkofer, Rudolf Ganger, Christof Radler, Gabriel T. Mindler
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundX-linked hypophosphatemia (XLH) is a rare monogenetic skeletal disorder. Lower limb deformities contribute substantially to impaired gait quality and burden of disease in patients with XLH. Standardized data regarding onset and severity of
Externí odkaz:
https://doaj.org/article/c8146e788e874b3f80154059918d2280
Autor:
Gabriel T. Mindler, Alexandra Stauffer, Andreas Kranzl, Stefan Penzkofer, Rudolf Ganger, Christof Radler, Gabriele Haeusler, Adalbert Raimann
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundGait 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
Externí odkaz:
https://doaj.org/article/421a326a74a542faa10669e36afd9ab7
Autor:
Adalbert Raimann, Alexandra Stauffer, Stefan Penzkofer, Rudolf Ganger, Christof Radler, Gabriel T. Mindler
Publikováno v:
Bone Reports. 16:101505
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae2e54b363cfd405efdfea763427c9cf
https://doi.org/10.1016/j.bonr.2022.101505
https://doi.org/10.1016/j.bonr.2022.101505