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.
D002648:Child; D002675:Child, Preschool; D002762:Cholecalciferol / Q000008:administration & dosage / Q000627:therapeutic use; D004100:Dihydroxycholecalciferols / Q000008:administration & dosage / Q000096:biosynthesis / Q000627:therapeutic use; D004872:Ergocalciferols / Q000008:administration & dosage / Q000627:therapeutic use; D006801:Humans; D006887:Hydroxycholecalciferols / Q000008:administration & dosage / Q000096:biosynthesis* / Q000378:metabolism / Q000627:therapeutic use; D007015:Hypophosphatemia, Familial / Q000188:drug therapy / Q000201:enzymology / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D007275:Injections, Intravenous; D013250:Steroid Hydroxylases / Q000378:metabolism; D013997:Time Factors; D014807:Vitamin D / Q000378:metabolism*
D004100:Dihydroxycholecalciferols; D004872:Ergocalciferols; D006887:Hydroxycholecalciferols; D014807:Vitamin D; D002762:Cholecalciferol; D013250:Steroid Hydroxylases