基层医院检验科对肾功能损伤的检查中开展胱抑素 c 测定的意义。方法:我实验室用颗粒增强透射比浊法检测100 例糖尿病病人和 55 例健康者的肾功能比对评价。结果:胱抑素 c 测定对早期肾功能损伤特别是糖尿病肾病的检测优于尿素氮、肌酐...
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基层医院检验科对肾功能损伤的检查中开展胱抑素 c 测定的意义。方法:我实验室用颗粒增强透射比浊法检测
100 例糖尿病病人和 55 例健康者的肾功能比对评价。结果:胱抑素 c 测定对早期肾功能损伤特别是糖尿病肾病的检测优于尿
素氮、肌酐、尿酸等。结果:基层医院检验科开展血清胱抑素 c 的测定很有必要,可大大提高糖尿病肾病的检出率。
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead...
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Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.
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