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

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program

意大利新生儿中链酰基辅酶A脱氢酶缺乏症(MCADD)筛查:一项全国性计划的五年经验

Ruoppolo, Margherita; Cereda, Cristina; Giovanniello, Teresa; Malvagia, Sabrina; Boenzi, Sara; Teofoli, Francesca; On Behalf Of The Simmesn Italian Newborn Screening Group; Burlina, Alberto

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

新生儿筛查中发现的甲基丙二酰辅酶A差向异构酶缺乏症的生化模式:病例报告

Maines, Evelina; Franceschi, Roberto; Rivieri, Francesca; Piccoli, Giovanni; Schulte, Björn; Hoffmann, Jessica; Bordugo, Andrea; Rodella, Giulia; Teofoli, Francesca; Vincenzi, Monica; Soffiati, Massimo; Camilot, Marta

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

患有室性心律失常和甲状腺发育不全的男孩:两个基因还不够吗?

Franceschi, Roberto; Maines, Evelina; Bellizzi, Maria; Rivieri, Francesca; Bacca, Andrea; Filippi, Alessandra; Valente, Enza Maria; Plumari, Massimo; Soffiati, Massimo; Vincenzi, Monica; Teofoli, Francesca; Camilot, Marta

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

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

在新生儿筛查扩大的新时代,线粒体脂肪酸氧化障碍的诊断、基因分型和临床随访:单中心经验

Maguolo, A; Rodella, G; Dianin, A; Nurti, R; Monge, I; Rigotti, E; Cantalupo, G; Salviati, L; Tucci, S; Pellegrini, F; Molinaro, G; Lupi, F; Tonin, P; Pasini, A; Campostrini, N; Ion Popa, F; Teofoli, F; Vincenzi, M; Camilot, M; Piacentini, G; Bordugo, A

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

早熟儿童:新生儿 17-OHP 筛查试验结果异常是否可作为预测因素?

Cavarzere, Paolo; Mauro, Margherita; Vincenzi, Monica; Lauriola, Silvana; Teofoli, Francesca; Gaudino, Rossella; Ramaroli, Diego Alberto; Micciolo, Rocco; Camilot, Marta; Antoniazzi, Franco

Vitamin B(12) Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

在服用钴胺素A (cblA) 的患者中,通过皮下导管装置给予维生素B12。

Maines, E; Morandi, G; Gugelmo, G; Ion-Popa, F; Campostrini, N; Pasini, A; Vincenzi, M; Teofoli, F; Camilot, M; Bordugo, A

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

在同一家族的四名成员中鉴定出一种新的pax8基因序列变异:从先天性甲状腺功能减退伴甲状腺发育不全到轻度亚临床甲状腺功能减退。

Vincenzi, Monica; Camilot, Marta; Ferrarini, Eleonora; Teofoli, Francesca; Venturi, Giacomo; Gaudino, Rossella; Cavarzere, Paolo; De Marco, Giuseppina; Agretti, Patrizia; Dimida, Antonio; Tonacchera, Massimo; Boner, Attilio; Antoniazzi, Franco

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