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

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care

通过以患者为中心的综合护理优化胱氨酸病的长期疗效

Elenberg, Ewa

Pediatric autoimmune diseases in the light of COVID-19 pandemic, A retrospective observational big data study

新冠肺炎疫情背景下的儿童自身免疫性疾病:一项回顾性观察性大数据研究

Kasem Ali Sliman, Rim; Cohen, Hilla; Shehadeh, Shereen; Batcir, Reut; Alter, Yigal Elenberg; Cohen, Keren; Koren, Ilana; Halabi, Inbal; Sliman, Hussein; Saied, Mohamad Hamad

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification

来自胱氨酸病患者的视角:获得医疗保健服务可能是变异分类的一个混杂因素

Wu, Chen-Han Wilfred; Tomaszewski, Alicja; Stark, Louisa; Scaglia, Fernando; Elenberg, Ewa; Schumaker, Fredrick R

Celiac in the twenty-first century-the change in BMI of children at diagnosis over the last two decades

二十一世纪的乳糜泻——过去二十年儿童确诊时BMI的变化

Kasem Ali Sliman, Rim; Stein, Nili; Elenberg Alter, Yigal

Renal Involvement and Its Treatment in Pediatric Patients With Proteinase-3 Anti-Neutrophil Cytoplasmic Antibody Positive Granulomatosis With Polyangiitis: A Case Series

蛋白酶3抗中性粒细胞胞浆抗体阳性肉芽肿性血管炎患儿肾脏受累及其治疗:病例系列研究

Wu, Xiaoyan; Mancuso, Elizabeth; Armendi, Isabel; Krasinski, David; Liu, Lin; Tarsi, Shauna; Waz, Wayne R; Abdul-Aziz, Rabheh; Elenberg, Ewa

Erratum: Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13

更正:一名婴儿同时存在补体因子H相关蛋白缺乏和自身抗体阳性溶血性尿毒综合征,该婴儿同时存在部分补体因子H和ADAMTS13自身抗体。

Michael, Mini; Turner, Nancy; Elenberg, Ewa; Shaffer, Linda G; Teruya, Jun; Arar, Mazen; Hui, Shiu-Ki; Smith, Richard J; Moake, Joel

Management of bone disease in cystinosis: Statement from an international conference

胱氨酸病骨骼疾病的管理:国际会议声明

Hohenfellner, Katharina; Rauch, Frank; Ariceta, Gema; Awan, Atif; Bacchetta, Justine; Bergmann, Carsten; Bechtold, Susanne; Cassidy, Noelle; Deschenes, Geroges; Elenberg, Ewa; Gahl, William A; Greil, Oliver; Harms, Erik; Herzig, Nadine; Hoppe, Bernd; Koeppl, Christian; Lewis, Malcolm A; Levtchenko, Elena; Nesterova, Galina; Santos, Fernando; Schlingmann, Karl P; Servais, Aude; Soliman, Neveen A; Steidle, Guenther; Sweeney, Clodagh; Treikauskas, Ulrike; Topaloglu, Rezan; Tsygin, Alexey; Veys, Koenraad; V Vigier, Rodo; Zustin, Jozef; Haffner, Dieter

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

全外显子组测序在先天性肾脏和泌尿系统畸形患者的分子诊断以及新致病基因的鉴定中的应用

Bekheirnia, Mir Reza; Bekheirnia, Nasim; Bainbridge, Matthew N; Gu, Shen; Coban Akdemir, Zeynep Hande; Gambin, Tomek; Janzen, Nicolette K; Jhangiani, Shalini N; Muzny, Donna M; Michael, Mini; Brewer, Eileen D; Elenberg, Ewa; Kale, Arundhati S; Riley, Alyssa A; Swartz, Sarah J; Scott, Daryl A; Yang, Yaping; Srivaths, Poyyapakkam R; Wenderfer, Scott E; Bodurtha, Joann; Applegate, Carolyn D; Velinov, Milen; Myers, Angela; Borovik, Lior; Craigen, William J; Hanchard, Neil A; Rosenfeld, Jill A; Lewis, Richard Alan; Gonzales, Edmond T; Gibbs, Richard A; Belmont, John W; Roth, David R; Eng, Christine; Braun, Michael C; Lupski, James R; Lamb, Dolores J

Nephropathic cystinosis: an international consensus document

肾病性胱氨酸病:国际共识文件

Emma, Francesco; Nesterova, Galina; Langman, Craig; Labbé, Antoine; Cherqui, Stephanie; Goodyer, Paul; Janssen, Mirian C; Greco, Marcella; Topaloglu, Rezan; Elenberg, Ewa; Dohil, Ranjan; Trauner, Doris; Antignac, Corinne; Cochat, Pierre; Kaskel, Frederick; Servais, Aude; Wühl, Elke; Niaudet, Patrick; Van't Hoff, William; Gahl, William; Levtchenko, Elena

Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate

使用缓释型酒石酸半胱胺治疗2年,肾病性胱氨酸病患者的生活质量得到改善,肾功能得以维持。

Langman, Craig B; Greenbaum, Larry A; Grimm, Paul; Sarwal, Minnie; Niaudet, Patrick; Deschenes, Georges; Cornelissen, Elisabeth A M; Morin, Denis; Cochat, Pierre; Elenberg, Ewa; Hanna, Christian; Gaillard, Segolene; Bagger, Mary Jo; Rioux, Patrice