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

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

在新生儿遗传代谢病筛查中联合应用生化分析和DNA测序:意大利参考中心的经验

Fecarotta, Simona; Vaccaro, Lorenzo; Verde, Alessandra; Alagia, Marianna; Rossi, Alessandro; Colantuono, Chiara; Cacciapuoti, Maria Teresa; Annunziata, Patrizia; Riccardo, Sara; Grimaldi, Antonio; Fusco, Tonya; De Santis, Rosa; Barretta, Fernando; Albano, Lucia; Crisci, Daniela; Vallone, Fabiana; Tarallo, Antonietta; Cesana, Marcella; Brunetti-Pierri, Nicola; Frisso, Giulia; Ruoppolo, Margherita; Cacchiarelli, Davide; Parenti, Giancarlo

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿童迟发型庞贝病:一项针对38名意大利患者的全国性调查结果及针对性诊断算法的提出

Spada, Marco; Gasperini, Serena; Filosto, Massimiliano; Astrea, Guja; Bracci, Beatrice; Bruno, Claudio; Burlina, Alberto; Cavallini, Anna; Concolino, Daniela; Crescitelli, Viola; D'Amico, Adele; Deodato, Federica; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fischetto, Rita; Fiumara, Agata; Furlan, Francesca; Gragnaniello, Vincenza; Mala, Damiano; Marica, Monica; Menni, Francesca; Pagliardini, Veronica; Panicucci, Claudia; Parenti, Giancarlo; Pession, Andrea; Ricci, Federica; Rovelli, Valentina; Sacchini, Michele; Santorelli, Filippo Maria; Santoro, Lucia; Scarpa, Maurizio; Taurisano, Roberta; Tummolo, Albina; Porta, Francesco

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience

新生儿肉碱摄取缺乏症筛查的益处和不足:一项为期4年的单中心经验

Turturo, Mariagrazia; Rossi, Alessandro; Barretta, Ferdinando; Albano, Lucia; Crisci, Daniela; Vallone, Fabiana; Uomo, Fabiana; Fecarotta, Simona; Alagia, Marianna; Strisciuglio, Pietro; Parenti, Giancarlo; Frisso, Giulia; Ruoppolo, Margherita

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review

GSTZ1基因变异导致马来酰乙酰乙酸异构酶缺乏症:两例新病例的特征分析及文献综述

Barretta, Ferdinando; Uomo, Fabiana; Verde, Alessandra; Fisco, Mariagrazia; Gallo, Giovanna; Albano, Lucia; Crisci, Daniela; Mazzaccara, Cristina; Strisciuglio, Pietro; Ruoppolo, Margherita; Fecarotta, Simona; Parenti, Giancarlo; Frisso, Giulia; Rossi, Alessandro

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

欧洲代谢疾病参考网络(MetabERN)庞贝病(酸性麦芽糖酶缺乏症,II型糖原贮积症)临床路径建议

Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose'; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A M E; Del Toro Riera, Mireja; Germain, Dominique P; Huidekoper, Hidde; van den Hout, Johanna M P; van der Ploeg, Ans T

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

RagD自身激活突变会损害肾小管病和心肌病综合征中的MiT/TFE活性

Irene Sambri # ,Marco Ferniani # ,Giulia Campostrini ,Marialuisa Testa ,Viviana Meraviglia ,Mariana E G de Araujo ,Ladislav Dokládal ,Claudia Vilardo ,Jlenia Monfregola ,Nicolina Zampelli ,Francesca Del Vecchio Blanco ,Annalaura Torella ,Carolina Ruosi ,Simona Fecarotta ,Giancarlo Parenti ,Leopoldo Staiano ,Milena Bellin ,Lukas A Huber ,Claudio De Virgilio ,Francesco Trepiccione ,Vincenzo Nigro ,Andrea Ballabio

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

对特定儿科人群进行溶酶体疾病筛查:以戈谢病和酸性鞘磷脂酶缺乏症为例

Di Rocco, Maja; Vici, Carlo Dionisi; Burlina, Alberto; Venturelli, Francesco; Fiumara, Agata; Fecarotta, Simona; Donati, Maria Alice; Spada, Marco; Concolino, Daniela; Pession, Andrea

On the Construct of Functional Psychology's Developmental Theory: Basic Experiences of the Self (BEsS)

论功能心理学发展理论的建构:自我基本体验(BEsS)

Dipasquale, Filippo; Blandini, Marta; Gueli, Raffaele; Fecarotta, Paola; Magnano, Paola

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

婴儿庞贝病中对阿糖苷酶的免疫反应:意大利儿科专家组的建议

Gragnaniello, Vincenza; Deodato, Federica; Gasperini, Serena; Donati, Maria Alice; Canessa, Clementina; Fecarotta, Simona; Pascarella, Antonia; Spadaro, Giuseppe; Concolino, Daniela; Burlina, Alberto; Parenti, Giancarlo; Strisciuglio, Pietro; Fiumara, Agata; Casa, Roberto Della