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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.

作者信息

Fraser D, Kooh S W, Kind H P, Holick M F, Tanaka Y, DeLuca H F

出版信息

N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.

DOI:10.1056/NEJM197310182891601
PMID:4357855
Abstract
摘要

相似文献

1
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.遗传性维生素D依赖性佝偻病的发病机制。一种维生素D代谢的先天性缺陷，涉及25-羟基维生素D向1α,25-二羟基维生素D的转化缺陷。
N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601.
2
New developments in pharmacology of vitamin D.维生素D药理学的新进展。
Med Lett Drugs Ther. 1974 Feb 1;16(3):15-6.
3
Familial hypophosphatemia: the dilemma of treatment.家族性低磷血症：治疗的困境
N Engl J Med. 1973 Sep 6;289(10):531-2. doi: 10.1056/NEJM197309062891010.
4
A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.遗传性维生素D依赖性佝偻病II型的细胞缺陷：培养的皮肤成纤维细胞中1,25 - 二羟基维生素D的核摄取缺陷
N Engl J Med. 1981 Jun 25;304(26):1588-91. doi: 10.1056/NEJM198106253042608.
5
[Vitamin d: recent acquisitions].
Arch Fr Pediatr. 1974 Nov;31(9):837-41.
6
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.II型维生素D依赖性佝偻病。靶器官对1,25-二羟维生素D的抵抗性。
N Engl J Med. 1978 May 4;298(18):996-9. doi: 10.1056/NEJM197805042981804.
7
Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.
N Engl J Med. 1975 Oct 23;293(17):840-4. doi: 10.1056/NEJM197510232931702.
8
1 alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia.
Pediatrics. 1987 Jul;80(1):97-101.
9
Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets.低磷性维生素D抵抗性佝偻病中骨骼对磷酸盐、麦角钙化醇和骨化三醇的反应
N Engl J Med. 1980 Oct 30;303(18):1023-31. doi: 10.1056/NEJM198010303031802.
10
Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.用25-羟胆钙化醇治疗维生素D抵抗性佝偻病。
Arch Intern Med. 1972 Jun;129(6):894-9.

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