Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Keith Steigbigel"'
Autor:
Keith Steigbigel, Ramon Gonzalez, Tania Grgurich, Amy Steele, Erika J Parisi, Steven M. Tommasini, Carolyn M. Macica, Juan C. Garbalosa, Richard Feinn
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1798-e1814
Context X-Linked hypophosphatemia (XLH) is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical presentation. Objective The adult XLH disorder has yet to be quantified on the basis of the physical and funct
Publikováno v:
Journal of the Endocrine Society
X-linked hypophosphatemia (XLH) arises due to inactivating mutations of the PHEX gene resulting in elevated circulating levels of the hormone FGF23, producing phosphaturia and impaired intestinal phosphate absorption. XLH is a lifelong metabolic dise