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Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis ...
Joris Anthonissen +4 more
doaj +1 more source
Safety and Effectiveness of Stoss Therapy in Children with Vitamin D Deficiency [PDF]
Objectives: Paediatric vitamin D (25-hydroxyvitamin D - 25OHD) deficiency can lead to nutritional rickets and extra-skeletal complications. Compliance with daily therapy can be difficult, making high dose, short-term vitamin D (stoss) therapy attractive ...
Tannous, Paul
core +1 more source
Regulation of phosphate transport in proximal tubules [PDF]
Homeostasis of inorganic phosphate (Pi) is primarily an affair of the kidneys. Reabsorption of the bulk of filtered Pi occurs along the renal proximal tubule and is initiated by apically localized Na+-dependent Pi cotransporters.
Biber, J. +3 more
core
Hypophosphatemic Rickets: A Targeted Literature Review to Characterize the Multiple Causes of Phosphate Wasting Disorders and Identify Potential Disease Biomarkers [PDF]
Hypophosphatemic rickets is a rare, renal phosphate wasting disorder that presents various skeletal deformities. Although there are specific clinical presentations and biochemical findings used to identify hypophosphatemic rickets, there are various ...
O\u27Mara, Christopher
core +1 more source
A PAI‐1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D‐resistant rickets model mouse
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23.
Cheng Qian +7 more
doaj +1 more source
Autosomal Dominant Hypophosphatemic Rickets/Osteomalacia: Clinical Characterization of a Novel Renal Phosphate-Wasting Disorder [PDF]
Michael J. Econs
openalex +1 more source
FGF23 metabolism, a new paradigm for chronic kidney disease [PDF]
Introduction: Fibroblast growth factor-23 (FGF23) is a major regulator of phosphate metabolism often elevated in genetic hypophosphataemic disorders and in chronic kidney disease.
Fraser, William +4 more
core
Genetic diseases resulting from disordered FGF23/klotho biology [PDF]
Econs, Michael J.
core +1 more source

