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- W1991963911 abstract "VITAMIN-D-dependent (or pseudo-vitamin-D-deficient) rickets is characterized by clinical and biochemical features of vitamin-D-deficient rickets and by remission of these features during treatment with supraphysiologic doses of vitamin D or of 25-hydroxyvitamin D (25-(OH)D).1 , 2 It is often hereditary, with patterns suggestive of autosomal-recessive transmission. In members of several kindreds who are classified as having vitamin-D-dependent rickets Type I, concentrations of 1,25-dihydroxyvitamin D (1,25(OH)2D) in serum have been low3 , 4; these patients can be treated with doses of 1,25-dihydroxycholecalciferol (1,25-(OH)2D3) that are estimated to maintain a normal average serum concentration and turnover of this metabolite.3 Presumably, . . ." @default.
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- W1991963911 date "1981-06-25" @default.
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- W1991963911 title "A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts" @default.
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- W1991963911 doi "https://doi.org/10.1056/nejm198106253042608" @default.
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