Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …

Inactivating mutations of the PHEX (phosphate-regulating gene with homologies to
endopeptidases on the X chromosome) endopeptidase, the disease-causing gene in X …

Phosphate plays essential roles in many biological processes, and the serum phosphate
level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the …

X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in
Fibroblast Growth Factor-23 (FG-F23) excess and phosphate wasting. Clinically, XLH …

In the past decade, research in genetic disorders of hypophosphatemia has significantly
expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) …

Investigation of X-linked hypophosphatemia (XLH) has led to the identification of a novel
phosphate-regulating homeostatic system. Initially considered vitamin D-refractory rickets …

X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans
caused by mutations in the phosphate-regulating gene with homologies to endopeptidases …

X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal
disease that often causes pain and short stature, as well as decreased physical function …

Abstract Context: X-Linked hypophosphatemia (XLH) is characterized by renal phosphate
wasting, with inappropriately low or normal serum 1, 25-dihydroxyvitamin D concentrations …

Abstract Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney
and therefore plays an essential role in phosphate balance in humans. There is a host of …