logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
V

Vincenza Gragnaniello

sapienza university rome
H指数:12
被引数:501

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey

意大利新生儿筛查后生物素酶缺乏症的当前管理：来自全国临床调查的证据

Molecular Genetics and Metabolism
IF3.5
2026-09-010
PRE
Tagliaferri, Francesco; Candela, Egidio; Biasucci, Giacomo; Bonati, Maria Teresa; Bordugo, Andrea; Concolino, Daniela; Crescitelli, Viola; Daniotti, Marta; De Giovanni, Donatella; Di Fiore, Antonella; Di Michele, Silvia; Dituri, Francesco; Fiori, Laura; Gragnaniello, Vincenza; Guzzetti, Chiara; La Rosa, Alessandro; La Spina, Luisa; Martinelli, Diego; Nardecchia, Francesca; Porta, Francesco; Rossi, Alessandro; Rubert, Laura; Santoro, Lucia; Schiaffino, Maria Cristina; Menni, Francesca
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-葡萄糖苷酶缺乏症

Journal of Inherited Metabolic Disease
IF3.8
2026-01-190
OAAI
Carla Damiano; Antonietta Tarallo; Vincenza Gragnaniello; Sandra Strollo; Simona Fecarotta; M. Rosaria Tuzzi; Elena Polishchuk; Sandro Montefusco; Anna Valanzano; Antonia Assunto; Nadia Minopoli; Roberto Della Casa; Roman Polishchuk; Stijn L. M. in 't Groen; Diego Luis Medina; Enrico Bertini; Rosalba Carrozzo; Julia Emmerich; Benedikt Schoser; W. W. M. Pim Pijnappel; Giancarlo Parenti
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿科迟发性庞贝病：来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出

Orphanet Journal of Rare Diseases
IF3.5
2025-11-280
OAAI
Marco Spada; Serena Gasperini; Massimiliano Filosto; Guja Astrea; Beatrice Bracci; Claudio Bruno; Alberto Burlina; Anna Cavallini; Daniela Concolino; Viola Crescitelli; Adele D’Amico; Federica Deodato; Carlo Dionisi-Vici; Maria Alice Donati; Simona Fecarotta; Rita Fischetto; Agata Fiumara; Francesca Furlan; Vincenza Gragnaniello; Damiano Mala; Monica Marica; Francesca Menni; Veronica Pagliardini; Claudia Panicucci; Giancarlo Parenti; Andrea Pession; Federica Ricci; Valentina Rovelli; Michele Sacchini; Filippo Maria Santorelli; Lucia Santoro; Maurizio Scarpa; Roberta Taurisano; Albina Tummolo; Francesco Porta
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-11-011
OAAI
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.; Riera, Mireja Del Toro; Germain, Dominique P.; Huidekoper, Hidde; van den Hout, Johanna M. P.; van der Ploeg, Ans T.

研究方向

暂未获取到该数据
A
Alberto Burlina
H 指数:63论文数:366被引数:1.6万
C
Chiara Cazzorla
H 指数:20论文数:66被引数:1,160
D
Daniela Gueraldi
H 指数:12论文数:62被引数:395
C
Christian Loro
H 指数:6论文数:29被引数:113
A
Andrea Puma
H 指数:6论文数:23被引数:90
A
Alessandro P. Burlina
H 指数:42论文数:198被引数:5,972
L
Leonardo Salviati
H 指数:61论文数:301被引数:1.5万
E
Elena Porcù
H 指数:20论文数:60被引数:1,202
S
Serena Gasperini
H 指数:28论文数:123被引数:2,395
F
Francesco Porta
H 指数:26论文数:141被引数:2,560