{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T13:45:17Z","timestamp":1769262317144,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1990,5,2]],"date-time":"1990-05-02T00:00:00Z","timestamp":641606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1991,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Vitamin D\u2010dependent rickets type II is a rare disease caused by a disorder of the receptor for 1, 25\u2010dihydroxyvitamin D (1, 25(OH)<jats:sub>2<\/jats:sub>D). Several parameters of this receptor\u2010effector system were investigated to obtain biochemical information on the presumed heterozygotes of vitamin D\u2010dependent rickets type II in parents of five patients and in their age\u2010matched controls. It was found that the serum concentrations of 1,25\u2010(OH)<jats:sub>2<\/jats:sub>D and 24,25\u2010dihydroxy\u2010vitamin D (24, 25(OH)<jats:sub>2<\/jats:sub>D), and the ratio of 1,25\u2010(OH)<jats:sub>2<\/jats:sub>D\/24,25\u2010(OH)<jats:sub>2<\/jats:sub>D differed significantly in the parents from those of the patients and the respective control groups. In the parents' cultured skin fibroblasts, the activity of 25\u2010hydroxyvitamin D\u201024\u2010hydroxylase induced by 10<jats:sup>\u22128<\/jats:sup> mol\/L 1, 25\u2010(OH)<jats:sub>2<\/jats:sub>D<jats:sub>3<\/jats:sub> ranged from 50 to 82% of that of their controls (versus 1\u201313% of controls for the patients). The binding capacity of the parents' [<jats:sup>3<\/jats:sup>H]1, 25\u2010(OH)<jats:sub>2<\/jats:sub>D<jats:sub>3<\/jats:sub> to the nucleus was 38\u201354% of that of their control subjects (versus 7\u201327% of controls for the patients). The parents' values were thus in a range between those of the patients and the control groups. These findings suggest that, in the parents, a partial impairment of the receptor system for 1,25\u2010(OH)<jats:sub>2<\/jats:sub>D led to an imbalance of vitamin D metabolism, thus confirming that vitamin D\u2010dependent rickets type II is an autosomal recessive inherited disease. Serum concentrations of 1, 25\u2010(OH)<jats:sub>2<\/jats:sub>D and 24,25\u2010(OH)<jats:sub>2<\/jats:sub>D may provide useful parameters for detecting heterozygotes of this disease.<\/jats:p>","DOI":"10.1007\/bf01800596","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:15:11Z","timestamp":1119374111000},"page":"231-240","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and biochemical findings in parents of children with vitamin D\u2010dependent rickets type II"],"prefix":"10.1002","volume":"14","author":[{"given":"I.","family":"Yokota","sequence":"first","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kobashi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Saijo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine University of Tokushima  Kuramoto\u2010cho 2 Tokushima 770 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1990,5,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1143","volume-title":"Vitamin D: Basic Research and its Clinical Application","author":"Balsan S.","year":"1979"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-57-4-803"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197805042981804"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)43340-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)69238-0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-59-3-383"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)34952-4"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198106253042608"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-6-1463"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-55-5-1020"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439245"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111796"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111074"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(84)90516-3"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00773a009"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2849209"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443263"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)92763-4"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-68-2-263"},{"key":"e_1_2_1_21_1","first-page":"107","volume-title":"Vitamin D: Chemical, Biochemical and Clinical Update","author":"Marx S. J.","year":"1985"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.21.6711"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80139-0"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02411248"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)70442-6"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(80)67057-8"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90167-9"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1542\/peds.80.1.97","article-title":"1\u03b1\u2010Hydroxyvitamin D3 treatment of three patients with 1, 25\u2010dihydroxyvitamin D\u2010receptor\u2010defect rickets and alopecia","volume":"80","author":"Takeda E.","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02024336"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-70-4-1068"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.183.4130.1198"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800596","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T05:12:47Z","timestamp":1694927567000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,3]]}},"alternative-id":["10.1007\/BF01800596"],"URL":"https:\/\/doi.org\/10.1007\/bf01800596","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5,2]]}}}