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Inherited forms of rickets and osteomalacia.

作者信息

Thakker R V, O'Riordan J L

出版信息

Baillieres Clin Endocrinol Metab. 1988 Feb;2(1):157-91. doi: 10.1016/s0950-351x(88)80012-0.

DOI:10.1016/s0950-351x(88)80012-0
PMID:2900631
Abstract
摘要

相似文献

1
Inherited forms of rickets and osteomalacia.佝偻病和骨软化症的遗传形式。
Baillieres Clin Endocrinol Metab. 1988 Feb;2(1):157-91. doi: 10.1016/s0950-351x(88)80012-0.
2
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Osteomalacia.
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The molecular background to hypophosphataemic rickets.低磷性佝偻病的分子背景。
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Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.一种新型X连锁低磷性佝偻病Xp11.2区域的基因定位
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Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism.女性维生素D缺乏性骨软化症和佝偻病的易感性与其25(OH)D和钙摄入量有关，而非维生素D受体基因多态性。
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[Hypophosphatemia of a genetic origin].[遗传性低磷血症]
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引用本文的文献

1
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].X连锁低磷血症性佝偻病患者的新型PHEX基因突变：2例分析
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):534-538. doi: 10.7499/j.issn.1008-8830.2017.05.011.
2
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant.基因检测确诊一名7个月大婴儿患X连锁低磷性佝偻病
J Investig Med High Impact Case Rep. 2015 Aug 3;3(3):2324709615598167. doi: 10.1177/2324709615598167. eCollection 2015 Jul-Sep.
3
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.
日本X连锁低磷性佝偻病患者中的一种新型PHEX突变
Case Rep Genet. 2015;2015:301264. doi: 10.1155/2015/301264. Epub 2015 Mar 15.
4
Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development.低磷血症性佝偻病与发育中小鼠扁平肩胛骨中纳米级矿物取向的破坏有关。
Bone. 2012 Sep;51(3):553-62. doi: 10.1016/j.bone.2012.04.021. Epub 2012 May 15.
5
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.对118个家系进行的PHEX分析揭示了低磷性佝偻病的新遗传线索。
Hum Genet. 2009 May;125(4):401-11. doi: 10.1007/s00439-009-0631-z. Epub 2009 Feb 15.
6
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.通过连锁研究将导致X连锁隐性肾结石症的基因定位于Xp11.22。
J Clin Invest. 1993 Jun;91(6):2351-7. doi: 10.1172/JCI116467.
7
Gene mapping of mineral metabolic disorders.矿物质代谢紊乱的基因定位
J Inherit Metab Dis. 1989;12 Suppl 1:231-46. doi: 10.1007/BF01799298.