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Identification of two novel mutations in the GALNT3 gene ina Chinese family with hyperphosphatemic familial tumoralcalcinosis 预览
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作者 Lihao Sun Lin Zhao +9 位作者 Lianiun Du Peipei Zhang Minjia Zhang Min Li Tingting Liu Lei Ye Bei Tao Hongyan Zhao Jianmin Liu Xiaoyi Ding 《骨研究:英文》 SCIE CAS CSCD 2016年第4期241-246,共6页
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease.This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressureand h... Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease.This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressureand hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 orKL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC.Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotyperelationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretationof the genetic information used for prenatal diagnosis and genetic counseling. 展开更多
关键词 医学 骨科学
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金水宝片佐助厄贝沙坦片治疗慢性肾小球肾炎的临床研究 预览
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作者 杨勇 宋学权 +2 位作者 王宵一 施占琴 丁敏 《中国现代医生》 2012年第1期 73-74,共2页
目的评价金水宝片佐助厄贝沙坦片治疗慢性肾小球肾炎(CGN)患者的疗效。方法100例CGN患者随机分成观察组和对照组。对照组给予厄贝沙坦片治疗;观察组采用金水宝片佐助厄贝沙坦片治疗。结果观察组完全缓解率及总缓解率均高于对照组(P... 目的评价金水宝片佐助厄贝沙坦片治疗慢性肾小球肾炎(CGN)患者的疗效。方法100例CGN患者随机分成观察组和对照组。对照组给予厄贝沙坦片治疗;观察组采用金水宝片佐助厄贝沙坦片治疗。结果观察组完全缓解率及总缓解率均高于对照组(P〈0.05);观察组24h尿蛋白定量及Scr改善情况均优于对照组(P〈0.01);两组均未见明显不良反应。结论金水宝片佐助厄贝沙坦片治疗CGN患者疗效佳,具有重要的临床价值。 展开更多
关键词 慢性肾小球肾炎 金水宝片 厄贝沙坦片
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