A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.
腎小球基因變異次級蛋白尿症中鈣調神經酶抑制劑的多中心回顧性研究。
Kidney Int 2024-01-05
Common Risk Variants in <i>AHI1</i> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
AHI1 基因常見風險變異與兒童類固醇敏感性腎症候群相關。
Kidney Int Rep 2024-02-14
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
138個類固醇抗藥性腎症家族中的拷貝數變異分析,識別出兩個家族中PLCE1和NPHS2的因果同源性缺失。
Pediatr Nephrol 2024-03-31
New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.
早發型腎症候群基因檢測的新見解:來自印度西部登記報告。
Pediatr Nephrol 2024-01-31
Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.
單中心研究:23.68% 的類固醇抗性腎症兒童中已確定單基因原因。
Kidney Dis (Basel) 2024-02-10
Introducing exome sequencing as part of the diagnostic algorithm for pediatric nephrology patients in Bulgaria - a single-center experience.
引入外顯子組測序作為保加利亞兒科腎病患者診斷流程的一部分-單一中心經驗。
Nephron 2024-03-28
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
在符合嚴格定義的類固醇抵抗性腎病綜合症中,單基因變異的發生率低於預期。
Pediatr Nephrol 2024-08-02