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

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases

用于遗传性神经退行性代谢疾病脂质生物标志物分析的新型多重液相色谱-串联质谱方法

Sidorina, Anna; Catesini, Giulio; Deodato, Federica; Boenzi, Sara; Martinelli, Diego; Rizzo, Cristiano; Dionisi-Vici, Carlo

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect

高剂量羟钴胺素疗法可改善钴胺素C缺乏症患者的生化和神经发育指标。

Olivieri, Giorgia; Greco, Benedetta; Cairoli, Sara; Catesini, Giulio; Lepri, Francesca Romana; Orazi, Lorenzo; Mallardi, Maria; Martinelli, Diego; Ricci, Daniela; Simeoli, Raffaele; Dionisi-Vici, Carlo

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1

非靶向代谢组学揭示晚期诊断的1型酪氨酸血症中与肝细胞癌风险相关的代谢重编程

Sidorina, Anna; Rizzo, Cristiano; Leal-Witt, María Jesús; Arias, Carolina; Cortés, Ignacio; Cornejo, Verónica; Sacchetti, Elisa; Catesini, Giulio; Boenzi, Sara; Dionisi-Vici, Carlo; Fuenzalida, Karen

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles

丙酸血症、甲基丙二酸血症和钴胺素C缺乏症:非靶向代谢组学特征的比较

Sidorina, Anna; Catesini, Giulio; Sacchetti, Elisa; Rizzo, Cristiano; Dionisi-Vici, Carlo

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

用于预测孤立性甲基丙二酸血症疾病进展和治疗反应的生物标志物

Manoli, Irini; Gebremariam, Abigael; McCoy, Samantha; Pass, Alexandra R; Gagné, Jack; Hall, Camryn; Ferry, Susan; Van Ryzin, Carol; Sloan, Jennifer L; Sacchetti, Elisa; Catesini, Giulio; Rizzo, Cristiano; Martinelli, Diego; Spada, Marco; Dionisi-Vici, Carlo; Venditti, Charles P

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

一种用于筛查尿液寡糖的新型 UHPLC-MS/MS 方法扩大了储存障碍的检测范围

Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici