Hypophosphatemia, Familial

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  Subject Areas on Research

  • Abnormal parathyroid function in the X-linked hypophosphatemic mouse. 
  • Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism. 
  • Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. 
  • Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. 
  • Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. 
  • Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. 
  • Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia. 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. 
  • Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. 
  • Multilocus mapping of the X-linked hypophosphatemic rickets gene. 
  • Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 
  • Parathyroid hormone effects on serum 1,25-dihydroxyvitamin D levels in patients with X-linked hypophosphatemic rickets: evidence for abnormal 25-hydroxyvitamin D-1-hydroxylase activity. 
  • Serum 1,25-dihydroxyvitamin D levels in subjects with X-linked hypophosphatemic rickets and osteomalacia. 
  • Serum FGF23 levels in normal and disordered phosphorus homeostasis. 
  • The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets. 
  • The efficacy of vitamin D2 and oral phosphorus therapy in X-linked hypophosphatemic rickets and osteomalacia. 
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 
  • X-Linked hypophosphatemic rickets: a disease often unknown to affected patients. 
  • X-linked hypophosphatemic rickets without "rickets".