日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

COVID-19 in children and young adults with kidney disease: risk factors, clinical features and serological response

患有肾病的儿童和青少年感染 COVID-19 的风险因素、临床特征和血清学反应

Weinbrand-Goichberg, Jenny; Ben Shalom, Efrat; Rinat, Choni; Choshen, Sapir; Tzvi-Behr, Shimrit; Frishberg, Yaacov; Becker-Cohen, Rachel

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

KIRREL1基因(肾小球裂隙膜成分之一)的突变会导致激素抵抗性肾病综合征。

Solanki, Ashish K; Widmeier, Eugen; Arif, Ehtesham; Sharma, Shailza; Daga, Ankana; Srivastava, Pankaj; Kwon, Sang-Ho; Hugo, Hannah; Nakayama, Makiko; Mann, Nina; Majmundar, Amar J; Tan, Wei; Gee, Heon Yung; Sadowski, Caroline E; Rinat, Choni; Becker-Cohen, Rachel; Bergmann, Carsten; Rosen, Seymour; Somers, Michael; Shril, Shirlee; Huber, Tobias B; Mane, Shrikant; Hildebrandt, Friedhelm; Nihalani, Deepak

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

线粒体丝氨酰tRNA合成酶的突变会导致高尿酸血症、肺动脉高压、婴儿期肾衰竭和碱中毒,即HUPRA综合征。

Belostotsky, Ruth; Ben-Shalom, Efrat; Rinat, Choni; Becker-Cohen, Rachel; Feinstein, Sofia; Zeligson, Sharon; Segel, Reeval; Elpeleg, Orly; Nassar, Suheir; Frishberg, Yaacov

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

DHDPSL基因突变是原发性高草酸尿症III型的致病原因。

Belostotsky, Ruth; Seboun, Eric; Idelson, Gregory H; Milliner, Dawn S; Becker-Cohen, Rachel; Rinat, Choni; Monico, Carla G; Feinstein, Sofia; Ben-Shalom, Efrat; Magen, Daniella; Weissman, Irith; Charon, Celine; Frishberg, Yaacov