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

Women with Autoimmune Thyroiditis Taking Levothyroxine During Pregnancy: Is Iodine Supplementation Needed?

妊娠期服用左甲状腺素钠的自身免疫性甲状腺炎女性:是否需要补充碘?

Censi, Simona; Messina, Giulia; Feligiotti, Emma; Clausi, Cristina; Piva, Ilaria; Basso, Daniela; Merante Boschin, Isabella; Bertazza, Loris; Battheu, Fiammetta; Barollo, Susi; Camilot, Marta; Mian, Caterina

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

Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism

对患有自身免疫性甲状腺功能减退症的母亲所生的新生儿进行复筛的益处

Cavarzere, Paolo; Palma, Laura; Nicolussi Principe, Lara; Vincenzi, Monica; Lauriola, Silvana; Gaudino, Rossella; Murri, Virginia; Lubrano, Luigi; Rossi, Giuliana; Sallemi, Alessia; Fattori, Ermanna; Camilot, Marta; Antoniazzi, Franco

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

Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

生长激素缺乏症和赖氨酸尿蛋白不耐受症:病例报告及文献综述

Evelina, Maines; Grazia, Morandi; Francesca, Olivieri; Marta, Camilot; Paolo, Cavarzere; Rossella, Gaudino; Franco, Antoniazzi; Andrea, Bordugo

Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

勘误:生长激素缺乏症和赖氨酸尿蛋白不耐受:病例报告及文献综述

Maines, Evelina; Morandi, Grazia; Olivieri, Francesca; Camilot, Marta; Cavarzere, Paolo; Gaudino, Rossella; Antoniazzi, Franco; Bordugo, Andrea