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Vitamin D-resistant rickets: clinical experience with 41 typical familial hypophosphatemic patients and 2 atypical nonfamilial cases.

作者信息

Stickler G B, Beabout J W, Riggs B L

出版信息

Mayo Clin Proc. 1970 Mar;45(3):197-218.

PMID:5435859
Abstract
摘要

相似文献

1
Vitamin D-resistant rickets: clinical experience with 41 typical familial hypophosphatemic patients and 2 atypical nonfamilial cases.维生素D抵抗性佝偻病:41例典型家族性低磷血症患者及2例非典型非家族性病例的临床经验
Mayo Clin Proc. 1970 Mar;45(3):197-218.
2
Hypophosphatemic vitamin D refractory rickets and osteomalacia.
Orthop Clin North Am. 1972 Nov;3(3):653-80.
3
Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.25-羟胆钙化醇长期治疗对低磷血症(维生素D抵抗性)佝偻病和骨软化症的影响。
Johns Hopkins Med J. 1972 Aug;131(2):118-32.
4
Medical management of simple familial rickets.单纯性家族性佝偻病的医学管理
Orthop Clin North Am. 1972 Mar;3(1):241-9.
5
Single-day therapy for nutritional vitamin D-deficiency rickets: a preferred method.营养性维生素D缺乏性佝偻病的单日疗法:一种首选方法。
J Pediatr. 1994 Sep;125(3):487-90. doi: 10.1016/s0022-3476(05)83303-7.
6
[Familial and sporadic hypophosphatemic vitamin D resistant rickets].
Acta Med Iugosl. 1972;26(4):339-63.
7
Metabolism of vitamin D3-3H in vitamin D-resistant rickets and familial hypophosphatemia.维生素D抵抗性佝偻病和家族性低磷血症中维生素D3-3H的代谢
J Clin Invest. 1967 Dec;46(12):1907-15. doi: 10.1172/JCI105680.
8
The pathophysiology and management of rickets.
Orthop Clin North Am. 1972 Nov;3(3):601-21.
9
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.使用磷酸盐和维生素D预防X连锁低磷血症中的侏儒症和佝偻病。
N Engl J Med. 1972 Sep 7;287(10):481-7. doi: 10.1056/NEJM197209072871003.
10
Nature of defect responsible for familial vitamin D-resistant rickets (VDRR) based on radioimmunoassay for parathyroid hormone (PTH).基于甲状旁腺激素(PTH)放射免疫测定法的家族性维生素D抵抗性佝偻病(VDRR)相关缺陷的性质
Trans Assoc Am Physicians. 1972;85:172-80.

引用本文的文献

1
Phenotypes of a family with XLH with a novel mutation.一个患有XLH且携带新突变的家族的表型。
Hum Genome Var. 2020 Mar 31;7:8. doi: 10.1038/s41439-020-0095-1. eCollection 2020.
2
Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases.X连锁低磷性佝偻病及相关疾病中的矢状缝早闭
Pediatr Radiol. 2007 Aug;37(8):805-12. doi: 10.1007/s00247-007-0503-4. Epub 2007 Jun 6.
3
Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.
家族性低磷血症性佝偻病患者在磷缺乏期间磷保留和1,25-二羟维生素D生成受损。
J Clin Invest. 1983 Jun;71(6):1562-9. doi: 10.1172/jci110912.
4
Pharmacology and therapeutic use of vitamin D and its analogues.维生素D及其类似物的药理学与治疗用途。
Drugs. 1981 Apr;21(4):241-56. doi: 10.2165/00003495-198121040-00001.
5
Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia.评估1,25-二羟维生素D3在X连锁低磷性佝偻病和骨软化症的发病机制及治疗中的作用。
J Clin Invest. 1980 Nov;66(5):1020-32. doi: 10.1172/JCI109930.
6
[Calcium absorption in health and disease. II. Syndromes of imparied calcium absorption (author's transl)].[健康与疾病中的钙吸收。II. 钙吸收受损综合征(作者译)]
Klin Wochenschr. 1974 Jan 15;52(2):64-73. doi: 10.1007/BF01468328.
7
X linked hypophosphataemia: treatment, height gain, and nephrocalcinosis.X连锁低磷血症:治疗、身高增长与肾钙质沉着症
Arch Dis Child. 1990 Oct;65(10):1125-8. doi: 10.1136/adc.65.10.1125.
8
Normal regulation of calcitriol production in Gy mice. Evidence for biochemical heterogeneity in the X-linked hypophosphatemic diseases.Gy小鼠中骨化三醇产生的正常调节。X连锁低磷血症疾病中生化异质性的证据。
J Clin Invest. 1990 Feb;85(2):334-9. doi: 10.1172/JCI114442.