journal1 ›› 2018, Vol. 26 ›› Issue (4): 462-464.DOI: 10.11852/zgetbjzz2018-26-04-33
Received:2017-07-24
Online:2018-04-10
Published:2018-04-10
李恬恬, 张立琴
通讯作者:
张立琴,E-mail:qdzlq1968@163.com
作者简介:李恬恬(1989-),女,住院医师,主要从事儿科临床工作。
CLC Number:
李恬恬, 张立琴. c.2069A≥G基因突变致X-连锁低磷抗D性佝偻病临床特征并文献复习[J]. 中国儿童保健杂志, 2018, 26(4): 462-464.
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URL: http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2018-26-04-33
| [1] Zivicnjak M,Schnabel D,Staude H,et al.Three-year growth horm one treatm ent in short children with X-linked hypophosphatem ic rickets:effects on linear growth and body disproportion[J].J Clin Endocrinol Metab,2011,96(12):2097-2105. [2] Bastepe M,Juppner H.Inherited hypophosphatem ic disorders in children and the evolving mechanisms of phosphate regulation[J].Rev Endocr Metab Disord,2008,9(2):171-180. [3] 曾畿生,王德芬.现代儿科内分泌学-基础与临床 [M].上海:上海科学技术文献出版社,2001:298-302. [4] Drezner MK.PHEX gene and hypophosphatemia[J].Kidney Int,2000,57(1):9-18. [5] 王静,金春莲,任梅宏,等.抗维生素D佝偻病PHEX基因突变分析[J].国际遗传学杂志,2008,31(4):251-254. [6] Carpenter TO,Imel EA,Holm IA,et al.A clinician's guide to X-linked hypophosphatemia[J].J Bone Miner Res,2011,26(7):1381-1388. [7] Cheon CK,Lee HS,Kim SY,et al.A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature[J].Ann Pediatr Endocrinol Metab,2014,19(1):36-41. [8] Durmaz E,Zou M,Al-Rijjal RA,et al.Novel and de novo PHEX,mutations in patients with hypophosphatemic rickets[J].Bone,2013,52(1):286-291. [9] Owen C,Chen F,Flenniken AM,et al.A novel Phex,mutation in a new mouse model of hypophosphatemic rickets?[J].J Cell Biochem,2012,113(7):2432-2441. [10] 宋莹,麻宏伟.X-连锁低磷性佝偻病的诊治进展[J].国际儿科学杂志,2015,42(1):25-27. [11] Chou YY,Chao SC,Tsai SC,et al.Novel PHEX gene m utations in two Taiwanese patients with hypophosphatem icrickets[J].J Formos Med Assoc,2005,104(3):198-202. |
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