Browsing by Author "Juppner, Harald"

Now showing 1 - 1 of 1
  • No Thumbnail Available
    Item
    Nephropathic 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.