Browsing by Author "Gafni, Rachel I."
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- ItemActivation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden(2019) De Castro, Luis F.; Burke, Andrea B.; Wang, Howard D.; Tsai, Jeffrey; Florenzano Valdés, Pablo Felipe; Pan, Kristen S.; Bhattacharyya, Nisan; Boyce, Alison M.; Gafni, Rachel I.; Molinolo, Alfredo A.
- ItemNephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23(2020) Florenzano, Pablo; Jimenez, Macarena; Ferreira, Carlos R.; Nesterova, Galina; Roberts, Mary Scott; Tella, Sri Harsha; Fernandez de Castro, Luis; Gafni, Rachel I.; Wolf, Myles; Juppner, Harald; Gales, Barbara; Wesseling-Perry, Katherine; Markovich, Daniela; Gahl, William A.; Salusky, Isidro B.; Collins, Michael T.Background The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown if persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral pattern distinct from that typically observed in CKD-mineral and bone disorder.
- ItemSkeletal Consequences of Nephropathic Cystinosis(2018) Florenzano Valdés, Pablo Felipe; Ferreira, Carlos; Nesterova, Galina; Roberts, Mary Scott; Harsha Tella, Sri; Fernández de Castro, Luis; Brown, Sydney M.; Whitaker, Adom; Pereira, Renata C.; Bulas, Dorothy; Gafni, Rachel I.; Salusky, Isidro B.; Gahl, William A.; Collins, Michael T.
- ItemTumor-induced osteomalacia(2017) Florenzano Valdés, Pablo Felipe; Gafni, Rachel I.; Collins, Michael T.