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遗传性低磷血症性佝偻病简述 被引量:3

Brief introduction of genetic hypophosphatemic rickets
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摘要 遗传性低磷血症性佝偻病(genetic hypophosphatemic rickets,GHR)又称为低血磷性抗维生素D佝偻病或家族性低磷血症,是一组以肾脏排出磷过多引起的低磷血症,从而导致以骨矿化障碍为主要临床表现的全身性慢性疾病[1]。
作者 王青青 薛颖 Wang Qingqing;Xue Ying
出处 《发育医学电子杂志》 2020年第3期277-281,共5页 Journal of Developmental Medicine (Electronic Version)
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  • 1夏维波,孟迅吾,周学瀛.调磷因子:成纤维细胞生长因子23[J].国外医学(内分泌学分册),2004,24(4):241-243. 被引量:11
  • 2徐武夷.低磷性佝偻病/软骨病[J].解放军保健医学杂志,2005,7(3):184-186. 被引量:4
  • 3赵红斌,张西正,郭勇.成骨细胞分化与信号转导研究进展[J].国外医学(生物医学工程分册),2005,28(6):344-347. 被引量:3
  • 4汪伶伶,吴光驰.低磷酸盐性佝偻病30例[J].实用儿科临床杂志,2006,21(14):929-930. 被引量:9
  • 5Zivicnjak M, Schnabel 0, Staude H, Even G, Marx M, Beetz R, et al. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion[J].J Clin Endocrinol Metab, 2011, 96(12): 2097-2105.
  • 6Bastepe M,Juppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation[J]. Rev Endocr Metab Disord, 2008, 9(2): 171-180.
  • 7Holm lA, Huang X, Kunkel LM. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets[J]. AmJ Hum Genet, 1997,60(4): 790-797.
  • 8Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T. Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets[J]. Hum Mutat, 2000, 15(4): 383-384.
  • 9Jap TS, Chiu CY, Niu OM, Levine MA. Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability[J]. Calcified Tissue Int, 2011, 88(5): 370-377 .
  • 10Xia W, Meng X,Jiang Y, Li M, Xing X, Pang L, et al. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets[J]. Calcified Tissue Int, 2007, 81(6): 415-420.

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