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

Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.

与新生儿糖尿病相关的PDX1错义变异会破坏染色质关联和蛋白质-蛋白质相互作用

Yang Xiaodun, Zanfardino Angela, Schiaffini Riccardo, Ishibashi Jeff, Daniel Bareket, Haemmerle Matthew W, Rapini Novella, Piscopo Alessia, Miraglia Del Giudice Emanuele, Digilio Maria Cristina, Iorio Raffaele, Mucciolo Mafalda, Cianfarani Stefano, Iafusco Dario, Barbetti Fabrizio, Stoffers Doris A

DKA in a toddler negative to type 1 diabetes autoantibodies: unusual presentation of Kearn-Sayre syndrome

一名1型糖尿病自身抗体阴性的幼儿发生糖尿病酮症酸中毒:Kearn-Sayre综合征的罕见表现

Deodati, Annalisa; Rapini, Novella; Martinelli, Diego; Mucciolo, Mafalda; Carozzo, Rosalba; Schiaffini, Riccardo; Cianfarani, Stefano; Barbetti, Fabrizio

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022

2003年至2022年意大利新生儿糖尿病格局的变化

Rapini, Novella; Delvecchio, Maurizio; Mucciolo, Mafalda; Ruta, Rosario; Rabbone, Ivana; Cherubini, Valentino; Zucchini, Stefano; Cianfarani, Stefano; Prandi, Elena; Schiaffini, Riccardo; Bizzarri, Carla; Piccini, Barbara; Maltoni, Giulio; Predieri, Barbara; Minuto, Nicola; Di Paola, Rossella; Giordano, Mara; Tinto, Nadia; Grasso, Valeria; Russo, Lucia; Tiberi, Valentina; Scaramuzza, Andrea; Frontino, Giulio; Maggio, Maria Cristina; Musolino, Gianluca; Piccinno, Elvira; Tinti, Davide; Carrera, Paola; Mozzillo, Enza; Cappa, Marco; Iafusco, Dario; Bonfanti, Riccardo; Novelli, Antonio; Barbetti, Fabrizio

Neonatal diabetes mellitus around the world: Update 2024

全球新生儿糖尿病:2024 年最新情况

Barbetti, Fabrizio; Deeb, Asma; Suzuki, Shigeru

Editorial: Personalized therapies for monogenic diabetes

社论:单基因糖尿病的个性化治疗

Delvecchio, Maurizio; Liu, Ming; Rapini, Novella; Barbetti, Fabrizio

Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants

病例报告:亡羊补牢,为时未晚,但越早越好:两例因 KCNJ11 变异导致的新生儿糖尿病患者从持续皮下胰岛素输注 (CSII) 转换为磺脲类药物治疗

Mancioppi, Valentina; Pozzi, Erica; Zanetta, Sara; Missineo, Anna; Savastio, Silvia; Barbetti, Fabrizio; Mellone, Simona; Giordano, Mara; Rabbone, Ivana

Monogenic diabetes clinic (MDC): 3-year experience

单基因糖尿病诊所(MDC):3年经验

Rapini, Novella; Patera, Patrizia I; Schiaffini, Riccardo; Ciampalini, Paolo; Pampanini, Valentina; Cristina, Matteoli M; Deodati, Annalisa; Bracaglia, Giorgia; Porzio, Ottavia; Ruta, Rosario; Novelli, Antonio; Mucciolo, Mafalda; Cianfarani, Stefano; Barbetti, Fabrizio

Correction to: Monogenic diabetes clinic (MDC): 3‑year experience

更正:单基因糖尿病诊所 (MDC):3 年经验

Rapini, Novella; Patera, Patrizia I; Schiaffini, Riccardo; Ciampalini, Paolo; Pampanini, Valentina; Cristina, Matteoli M; Deodati, Annalisa; Bracaglia, Giorgia; Porzio, Ottavia; Ruta, Rosario; Novelli, Antonio; Mucciolo, Mafalda; Cianfarani, Stefano; Barbetti, Fabrizio

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

ISPAD 2022 年临床实践共识指南:儿童和青少年单基因糖尿病的诊断和管理

Greeley, Siri Atma W; Polak, Michel; Njølstad, Pål R; Barbetti, Fabrizio; Williams, Rachel; Castano, Luis; Raile, Klemens; Chi, Dung Vu; Habeb, Abdelhadi; Hattersley, Andrew T; Codner, Ethel

Editorial: Monogenic diabetes: from genetics and cell biology to clinical practice

社论:单基因糖尿病:从遗传学和细胞生物学到临床实践

Ding, Li; Barbetti, Fabrizio; Liu, Ming