Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.
No abstract available

MeSH terms

  • Child
  • Child, Preschool
  • Cholecalciferol / administration & dosage
  • Cholecalciferol / therapeutic use
  • Dihydroxycholecalciferols / administration & dosage
  • Dihydroxycholecalciferols / biosynthesis
  • Dihydroxycholecalciferols / therapeutic use
  • Ergocalciferols / administration & dosage
  • Ergocalciferols / therapeutic use
  • Humans
  • Hydroxycholecalciferols / administration & dosage
  • Hydroxycholecalciferols / biosynthesis*
  • Hydroxycholecalciferols / metabolism
  • Hydroxycholecalciferols / therapeutic use
  • Hypophosphatemia, Familial / drug therapy
  • Hypophosphatemia, Familial / enzymology
  • Hypophosphatemia, Familial / etiology*
  • Hypophosphatemia, Familial / genetics
  • Hypophosphatemia, Familial / metabolism
  • Injections, Intravenous
  • Steroid Hydroxylases / metabolism
  • Time Factors
  • Vitamin D / metabolism*

Substances

  • Dihydroxycholecalciferols
  • Ergocalciferols
  • Hydroxycholecalciferols
  • Vitamin D
  • Cholecalciferol
  • Steroid Hydroxylases