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

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-匹克病C型共识临床管理指南

Hiwot, Tarekegn; Porter, Forbes D; Bremova-Ertl, Tatiana; Ramaswami, Uma; Hastings, Caroline; Héron, Bénédicte; Hopkin, Justin; Melville, Joella; Amartino, Hernan; Del Toro, Mireia; Deodato, Federica; Ezgü, Fatih; Gissen, Paul; Gibson, James B; Ficicioglu, Can; Giugliani, Roberto; Staretz-Chacham, Orna; Platt, Frances; Guffon, Nathalie; Julich, Kristina; Kresojević, Nikola; Lehman, Anna; Nadjar, Yann; Schneider, Susanne A; Jones, Simon; Mengel, Eugen; Tchan, Michel; Walterfang, Mark; Goker-Alpan, Ozlem; Dawson, Charlotte; Cowie, Sandra; Mathieson, Toni; Berry-Kravis, Elizabeth; Patterson, Marc C

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

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension

在一项单臂、开放标签的 2/3 期子研究和扩展研究中,对 3 岁以下患有神经性粘多糖贮积症 II 型的儿童进行鞘内注射艾杜硫酶 (IT) 治疗。

Muenzer, Joseph; Burton, Barbara K; Harmatz, Paul; Gutiérrez-Solana, Luis González; Ruiz-Garcia, Matilde; Jones, Simon A; Guffon, Nathalie; Inbar-Feigenberg, Michal; Bratkovic, Drago; Rust, Stewart; Hale, Michael; Wu, Yuna; Yee, Karen S; Whiteman, David A H; Alexanderian, David

Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis

在α-甘露糖苷酶缺乏症患者中,velmanase alfa治疗长达12年的长期疗效和安全性研究。

Guffon, Nathalie; Borgwardt, Line; Tylki-Szymańska, Anna; Ballabeni, Andrea; Donà, Francesca; Joseph, Amer; Nienhuis, Henriët; Maugeri, Caterina; Lund, Allan

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

评估静脉注射艾杜硫酶和鞘内注射艾杜硫酶早期治疗对神经病性黏多糖贮积症 II 型同胞认知功能的影响

Muenzer, Joseph; Burton, Barbara K; Harmatz, Paul; Gutiérrez-Solana, Luis González; Ruiz-Garcia, Matilde; Jones, Simon A; Guffon, Nathalie; Inbar-Feigenberg, Michal; Bratkovic, Drago; Rust, Stewart; Hale, Michael; Wu, Yuna; Yee, Karen S; Whiteman, David A H; Alexanderian, David

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency

奥利普达酶α酶替代疗法治疗酸性鞘磷脂酶缺乏症儿童和青少年的长期安全性和临床疗效

Scarpa, Maurizio; Diaz, George A; Giugliani, Roberto; Jones, Simon A; Mengel, Eugen; Guffon, Nathalie; Witters, Peter; Ganesh, Jaya; Armstrong, Nicole M; Srivastava, Shruti; Kim, Yong

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

α-甘露糖苷酶缺乏症患者的活动能力、疼痛/不适、自我护理和心理健康状况的变化:一项国际照护者和患者调查

Stepien, Karolina M; Thomas, Sophie; Hennermann, Julia B; Lampe, Christina; Muschol, Nicole M; Ballesta-Martínez, Maria Juliana; Cruz, Jordi; López-Rodríguez, Mónica; Barth, Anneliese; Magner, Martin; Lund, Allan M; Plaiasu, Vasilica; Ballabeni, Andrea; Donà, Francesca; Morgan, Heather M; Guffon, Nathalie

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

MPS IVA 成人患者接受 elosulfase alfa 酶替代疗法的长期疗效:Morquio A 注册研究 (MARS) 的亚组分析

Stepien, Karolina M; Burton, Barbara K; Bober, Michael B; Campeau, Philippe M; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Hunt, Abigail; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Murphy, Elaine; Reisewitz, Pascal; Mitchell, John J

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I

一组I型粘多糖贮积症患者接受单一酶疗法(拉罗尼酶)的临床结果

Guffon, Nathalie; Pettazzoni, Magali; Pangaud, Nicolas; Reynes, Nathalie; Le Peillet Feuillet, Eliane; Journeau, Pierre; Fouilhoux, Alain

Acid sphingomyelinase deficiency in France: a retrospective survival study

法国酸性鞘磷脂酶缺乏症:一项回顾性生存研究

Mauhin, Wladimir; Guffon, Nathalie; Vanier, Marie T; Froissart, Roseline; Cano, Aline; Douillard, Claire; Lavigne, Christian; Héron, Bénédicte; Belmatoug, Nadia; Uzunhan, Yurdagül; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier