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

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

托斯卡纳新生儿异染性脑白质营养不良筛查:成功预防医学项目的典范

Malvagia, Sabrina; Bettiol, Alessandra; Porcaro, Margherita; Mura, Massimo; Funghini, Silvia; Ombrone, Daniela; Forni, Giulia; Scolamiero, Emanuela; Coppi, Filippo; Damiano, Roberta; Cereda, Cristina; Simonetti, Simonetta; Lonetti, Annalisa; Daniotti, Marta; Caciotti, Anna; Morrone, Amelia; Calbi, Valeria; Fumagalli, Francesca; Aiuti, Alessandro; Procopio, Elena; Guerrini, Renzo; la Marca, Giancarlo

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

Features of a headache after COVID-19 in patients with primary headaches

原发性头痛患者感染新冠病毒后头痛的特征

Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; la Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia; Bozhenko, Nataliya; Bozhenko, Myroslav

High frequency of biotinidase deficiency in Italian population identified by newborn screening

新生儿筛查发现意大利人群中生物素酶缺乏症的发生率很高

Funghini, Silvia; Tonin, Rodolfo; Malvagia, Sabrina; Caciotti, Anna; Donati, Maria Alice; Morrone, Amelia; la Marca, Giancarlo

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis

支持采用液相色谱-串联质谱法测定硫酸乙酰肝素和硫酸皮肤素的数据

Forni, Giulia; Malvagia, Sabrina; Funghini, Silvia; Scolamiero, Emanuela; Mura, Massimo; Bona, Maria Della; Villanelli, Fabio; Damiano, Roberta; la Marca, Giancarlo

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

TAZ基因的个体内部可塑性导致巴特综合征患儿兄弟姐妹出现不同的遗传突变。

Lorenzo Ferri,Maria A Donati,Silvia Funghini,Catia Cavicchi,Viviana Pensato,Cinzia Gellera,Federica Natacci,Luigina Spaccini,Serena Gasperini,Frédéric M Vaz,David N Cooper,Renzo Guerrini,Amelia Morrone

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

十七烷酰肉碱(C17)是一种用于新生儿丙酸血症和甲基丙二酸血症筛查的新型候选生物标志物

Malvagia, Sabrina; Haynes, Christopher A; Grisotto, Laura; Ombrone, Daniela; Funghini, Silvia; Moretti, Elisa; McGreevy, Kathleen S; Biggeri, Annibale; Guerrini, Renzo; Yahyaoui, Raquel; Garg, Uttam; Seeterlin, Mary; Chace, Donald; De Jesus, Victor R; la Marca, Giancarlo

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

成人OTC基因突变引起的突发性意外致命性脑病——早期诊断和及时治疗的线索

Cavicchi, Catia; Donati, Maria; Parini, Rossella; Rigoldi, Miriam; Bernardi, Mauro; Orfei, Francesca; Gentiloni Silveri, Nicolò; Colasante, Aniello; Funghini, Silvia; Catarzi, Serena; Pasquini, Elisabetta; la Marca, Giancarlo; Mooney, Sean; Guerrini, Renzo; Morrone, Amelia

New clinical and molecular insights on Barth syndrome

巴特综合征的最新临床和分子研究进展

Lorenzo Ferri,Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéric M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations

3-羟酰辅酶A脱氢酶缺乏症:鉴定出一种导致高胰岛素血症性低酮性低血糖、有机酸和酰基肉碱浓度改变的新突变

Popa, Florina Ion; Perlini, Silvia; Teofoli, Francesca; Degani, Daniela; Funghini, Silvia; La Marca, Giancarlo; Rinaldo, Piero; Vincenzi, Monica; Antoniazzi, Franco; Boner, Attilio; Camilot, Marta