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

Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management

Bardet-Biedl综合征中的过度摄食:病理生理学、负担和治疗

Beales, Philip L; Cetiner, Metin; Haqq, Andrea M; Miller, Jennifer; Shoemaker, Ashley H; Valverde, Diana; Zacchia, Miriam; Dollfus, Hélène

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology

Bardet-Biedl综合征合并慢性肾脏病:支持多因素病因的证据

Zacchia, Miriam; Secondulfo, Floriana; Melluso, Andrea; Del Vecchio Blanco, Francesca; Di Iorio, Valentina; Torella, Anna Laura; Piluso, Giulio; Capolongo, Giovanna; Trepiccione, Francesco; Simonelli, Francesca; Nigro, Vincenzo; Perna, Alessandra; Capasso, Giovambattista

Ravulizumab in treatment-naïve patients with atypical hemolytic uremic syndrome: a real-world case series

拉武利珠单抗治疗初治非典型溶血性尿毒综合征患者:一项真实世界病例系列研究

Livia Maria, Sorrentino; Iacuzzo, Candida; Sciri, Raffaela; Zacchia, Miriam; Iannuzzi, Mariarosaria; Marotta, Paola; Vitale, Piercarla; Taglioni, Chiara; Secondulfo, Floriana; Palazzetti, Daniela; Baccaro, Rocco

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care

基于基因组的肾纤毛病建模及患者护理改进进展

Secondulfo, Floriana; Del Vecchio Blanco, Francesca; Capolongo, Giovanna; Piluso, Giulio; Nigro, Vincenzo; Perna, Alessandra F; Capasso, Giovambattista; Zacchia, Miriam

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN

甲基丙二酸血症肾脏管理临床实践建议:ERKNet 和 MetabERN 专家共识声明

Servais, Aude; Zacchia, Miriam; Dehoux, Laurène; Shroff, Rukshana; Brassier, Anais; Taurisano, Roberta; Kölker, Stefan; Oh, Jun; Ariceta, Gema; Stojanovic, Jelena; Hörster, Friederike; Strologo, Dello; Spada, Marco; Schiff, Manuel; Dionisi-Vici, Carlo

Cyclosporin-induced hypertension is associated with the up-regulation of Na+-K+-2Cl- cotransporter (NKCC2)

环孢素诱发的高血压与Na+-K+-2Cl-共转运蛋白(NKCC2)的上调有关。

Capolongo, Giovanna; Damiano, Sara; Suzumoto, Yoko; Zacchia, Miriam; Rizzo, Maria; Zona, Enrica; Pollastro, Rosa Maria; Simeoni, Mariadelina; Ciarcia, Roberto; Trepiccione, Francesco; Capasso, Giovambattista

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

更正:关于Alport综合征分子诊断标准和指南的共识声明:完善ACMG标准

Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Bardet-Biedl综合征诊断标准和治疗方案改进:欧洲参考网络共识声明和建议

Dollfus, Hélène; Lilien, Marc R; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M; Cetiner, Metin; van den Akker, Erica L T; Grudzinska Pechhacker, Monika; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F; Simonelli, Francesca; Gouronc, Aurélie; Gavard, Amélie; van Haelst, Mieke M; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P; Mosbah, Héléna; Van Eerde, Albertien M; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

巴德-比德尔综合征:当前观点和临床展望

Melluso, Andrea; Secondulfo, Floriana; Capolongo, Giovanna; Capasso, Giovambattista; Zacchia, Miriam

Guidelines for Genetic Testing and Management of Alport Syndrome

阿尔波特综合征基因检测和管理指南

Savige, Judy; Lipska-Zietkiewicz, Beata S; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierzynska, Agnieszka; Gangemi, Concetta; Renieri, Alessandra; Storey, Helen; Flinter, Frances