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

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo

Posterior-Only Reduction of High-Grade Traumatic Thoracic Spondyloptosis

仅后路复位治疗重度创伤性胸椎滑脱

Patel, Paarth; Patterson, Thomas Tyler; McGinity, Michael; Gragnaniello, Cristian

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report

短期强化阿伐葡萄糖苷酶α方案治疗晚期诊断的婴儿型庞贝病:病例报告

Gragnaniello, Vincenza; Pozza, Alice; Cazzorla, Chiara; Gueraldi, Daniela; Di Salvo, Giovanni; Burlina, Alberto B

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience

新生儿3-甲基巴豆酰辅酶A羧化酶缺乏症筛查的心理影响:父母的经历

Gragnaniello, Vincenza; Gaiga, Giacomo; Cazzorla, Chiara; Porcù, Elena; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Doimo, Mara; Salviati, Leonardo; Burlina, Alberto B

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden

新生儿戈谢病筛查:父母压力和心理负担

Cazzorla, Chiara; Gragnaniello, Vincenza; Gaiga, Giacomo; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Benetti, Giada; Schiavo, Rossana; Porcù, Elena; Burlina, Alessandro P; Burlina, Alberto B

Time perception in cerebellar and basal ganglia stroke patients

小脑和基底神经节卒中患者的时间感知

Antonioni, Annibale; Raho, Emanuela Maria; Capizzi, Mariagrazia; Gozzi, Andrea; Antenucci, Pietro; Casadei, Enrico; Romeo, Zaira; Visalli, Antonino; Gragnaniello, Daniela; Mioni, Giovanna; Pugliatti, Maura

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders

隐性负担:溶酶体贮积症的胃肠道受累

Gragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Burlina, Alberto B

An Edge AI Approach for Low-Power, Real-Time Atrial Fibrillation Detection on Wearable Devices Based on Heartbeat Intervals

基于心跳间隔的低功耗、实时可穿戴设备房颤检测边缘人工智能方法

Cinotti, Eliana; Gragnaniello, Maria; Parlato, Salvatore; Centracchio, Jessica; Andreozzi, Emilio; Bifulco, Paolo; Riccio, Michele; Esposito, Daniele

The multifaceted challenges faced by women in the field of inherited metabolic disorders

女性在遗传代谢疾病领域面临的多方面挑战

Lenzini, Livia; Bianconi, Sara; Gugelmo, Giorgia; Gragnaniello, Vincenza; Messerotti Benvenuti, Simone; Fadini, Gian Paolo; Vitturi, Nicola

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿童迟发型庞贝病:一项针对38名意大利患者的全国性调查结果及针对性诊断算法的提出

Spada, Marco; Gasperini, Serena; Filosto, Massimiliano; Astrea, Guja; Bracci, Beatrice; Bruno, Claudio; Burlina, Alberto; Cavallini, Anna; Concolino, Daniela; Crescitelli, Viola; D'Amico, Adele; Deodato, Federica; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fischetto, Rita; Fiumara, Agata; Furlan, Francesca; Gragnaniello, Vincenza; Mala, Damiano; Marica, Monica; Menni, Francesca; Pagliardini, Veronica; Panicucci, Claudia; Parenti, Giancarlo; Pession, Andrea; Ricci, Federica; Rovelli, Valentina; Sacchini, Michele; Santorelli, Filippo Maria; Santoro, Lucia; Scarpa, Maurizio; Taurisano, Roberta; Tummolo, Albina; Porta, Francesco