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

Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I

利用脂质体 CRISPR/Cas9 介导的局部基因组编辑治疗 I 型粘多糖贮积症的关节疾病

Santos, Hallana Souza; Poletto, Edina; Vera, Luisa Natalia Pimentel; Farinon, Mirian; Kubaski, Francyne; Carneiro, Paola Barcelos; Carniel, Willian da Silva; Giugliani, Roberto; Matte, Ursula; Teixeira, Helder Ferreira; Schuh, Roselena Silvestri; Baldo, Guilherme

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

从分子到意义:GM1中的神经病变生物标志物及其临床意义

Casazza, Krista; Giugliani, Roberto; Regier, Debra S; Jarnes, Jeanine

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

阿加糖酶α治疗法布里病成人患者的长期疗效和安全性结果:来自法布里病结局调查的20年数据

Hughes, Derralynn A; Pintos-Morell, Guillem; Kampmann, Christoph; Anagnostopoulou, Christina; Botha, Jaco; Jain, Siddharth; Nicholls, Kathleen; Niu, Dau-Ming; Reisin, Ricardo; West, Michael L; Schenk, Jörn; Ramaswami, Uma; Giugliani, Roberto

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil

巴西酸性鞘磷脂酶缺乏症疾病负担的回顾性病历审查研究

Giugliani, Roberto; Siqueira, Ana Cecília Menezes de; Martins, Ana Maria; Marcondes, Bianca Fernandes; Souza, Carolina Fischinger Moura de; Dain Gandelman Horovitz, Dafne; Leão, Emília Katiane Embiruçu; Gusto, Gaelle; Carvalho, Gerson da Silva; Artigalás, Osvaldo; Boy, Raquel; Stefani, Rodrigo Rosa de; Rawat, Neeraj Singh; Konidaris, Gerasimos

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome

关于elosulfase alfa在患有Morquio A综合征的非行走患者中的作用的临床专家意见

de Souza, Carolina F M; Burton, Barbara K; Campeau, Philippe M; Giugliani, Roberto; Guffon, Nathalie; Lampe, Christina; Muschol, Nicole; Sivri, Serap; Solano, Martha; Stepien, Karolina M

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey

女性粘多糖贮积症 II 型 (MPS II) 患者:来自 Hunter 预后调查的启示

Burton, Barbara K; Amartino, Hernan; Giugliani, Roberto; Kampmann, Christoph; Raiman, Julian; Scarpa, Maurizio; Tylki-Szymańska, Anna; Audi, Jennifer; Botha, Jaco; Jain, Siddarth; Muenzer, Joseph

Immediate or early skin-to-skin contact for mothers and their healthy newborn infants

母亲与其健康新生儿之间应立即或尽早进行肌肤接触

Moore, Elizabeth R; Brimdyr, Kajsa; Blair, Anna; Jonas, Wibke; Lilliesköld, Siri; Svensson, Kristin; Ahmed, Azza H; Bastarache, Louise R; Crenshaw, Jeannette T; Giugliani, Elsa R J; Grady, Julie E; Zakarija-Grkovic, Irena; Haider, Rukhsana; Hill, Rebecca R; Kagawa, Mike Nantamu; Mbalinda, Scovia N; Stevens, Jeni; Takahashi, Yuki; Cadwell, Karin

Clinical trials to gene therapy development and production in Brazil: a review

巴西基因治疗研发和生产的临床试验:综述

Morales Saute, Jonas Alex; Picanço-Castro, Virginia; de Freitas Lopes, Ana Carolina; da Silva Júnior, João Batista; Henriques Nehm, Johanna; Dos Santos Maciel, Franciele; Doederlein Schwartz, Ida Vanessa; Ferraz Sallum, Juliana Maria; Castro Ozelo, Margareth; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme

Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice

新生小鼠静脉注射脂质体CRISPR/Cas9复合物未出现脱靶效应或肿瘤发生

Monteagudo, Vinícius; Flores, Larissa Cristina Barbosa; Lopes, Melaine; Fachel, Flavia Nathiely Silveira; Martins, Giselle; Siebert, Marina; Carniel, Willian da Silva; Garcez, Tuane Nerissa Alves; Teixeira, Helder Ferreira; Matte, Ursula; Giugliani, Roberto; Baldo, Guilherme; Poletto, Édina; Schuh, Roselena Silvestri

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

ISNS 2025 年新生儿血斑筛查通用指南

Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Baker, Mei; Cheillan, David; Chabraoui, Layachi; Abdoh, Ghassan; Cabello, Juan; Giugliani, Roberto; Platis, Dimitris; Østrup, Jan; Howell, R Rodney; Schielen, Peter C J I; Bonham, James R