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

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

新生儿筛查中丁酰肉碱升高:通过评估新的比值减少假阳性并区分两种罕见疾病

Messina, MariaAnna; Arena, Alessia; Iacobacci, Riccardo; La Spina, Luisa; Meli, Concetta; Raudino, Federica; Ruggieri, Martino

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample

自闭症谱系障碍患者的神经活性氨基酸谱:来自临床样本的结果

Randazzo, Martina; Prato, Adriana; Messina, MariaAnna; Meli, Concetta; Casabona, Antonino; Rizzo, Renata; Barone, Rita

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

意大利利用串联质谱法扩大新生儿筛查范围:两年的全国经验

Ruoppolo, Margherita; Malvagia, Sabrina; Boenzi, Sara; Carducci, Carla; Dionisi-Vici, Carlo; Teofoli, Francesca; Burlina, Alberto; Angeloni, Antonio; Aronica, Tommaso; Bordugo, Andrea; Bucci, Ines; Camilot, Marta; Carbone, Maria Teresa; Cardinali, Roberta; Carducci, Claudia; Cassanello, Michela; Castana, Cinzia; Cazzorla, Chiara; Ciatti, Renzo; Ferrari, Simona; Frisso, Giulia; Funghini, Silvia; Furlan, Francesca; Gasperini, Serena; Gragnaniello, Vincenza; Guzzetti, Chiara; La Marca, Giancarlo; La Spina, Luisa; Lorè, Tania; Meli, Concetta; Messina, MariaAnna; Morrone, Amelia; Nardecchia, Francesca; Ortolano, Rita; Parenti, Giancarlo; Pavanello, Enza; Pieragostino, Damiana; Pillai, Sara; Porta, Francesco; Righetti, Francesca; Rossi, Claudia; Rovelli, Valentina; Salina, Alessandro; Santoro, Laura; Sauro, Pina; Schiaffino, Maria Cristina; Simonetti, Simonetta; Vincenzi, Monica; Tarsi, Elisabetta; Uccheddu, Anna Paola

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

利用串联质谱法进行新生儿筛查,是重新评估新生儿及其家庭成员中被低估疾病患病率的有力工具:以短链酰基辅酶A脱氢酶缺乏症为例

Messina, MariaAnna; Arena, Alessia; Fiumara, Agata; Iacobacci, Riccardo; Meli, Concetta; Raudino, Federica

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

利用串联质谱法扩大新生儿筛查范围:西西里岛东部七年的经验

Messina, MariaAnna; Meli, Concetta; Raudino, Federica; Pittalá, Annarita; Arena, Alessia; Barone, Rita; Giuffrida, Fortunata; Iacobacci, Riccardo; Muccilli, Vera; Sorge, Giovanni; Fiumara, Agata