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

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

接受奥利普达酶α酶替代疗法长达5年的治疗,酸性鞘磷脂酶缺乏症成年患者的临床疗效持续改善:ASCEND试验最终结果

Wasserstein, Melissa P; Hollak, Carla E; Barbato, Antonio; Gallagher, Renata C; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L; Villarrubia, Jesus; Armstrong, Nicole M; Bhushan, Shashi; Kim, Yong; Kumar, Monica

"Case report": Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter

病例报告:全外显子组测序揭示家族性白质消失病例中EIF2B5基因的复合杂合变异

Savy, Sofía; Montes, Francisco A; Grosso, Carola L; Laróvere, Laura E; Silvera-Ruiz, Silene M; Carro, Gerardo H; Guelbert, Guillermo; Becerra, Adriana; Morales, David; Nicola, Juan P

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

拉丁美洲经典型和非典型晚期婴儿神经元蜡样脂褐质沉积症:临床和遗传学特征,以及使用 Cerliponase Alfa 治疗的结果

Guelbert, Norberto; Espitia Segura, Oscar Mauricio; Amoretti, Carolina; Arteaga Arteaga, Angélica; Atanacio, Nora Graciela; Bazan Natacha, Sabrina; Carvalho, Ellaine Doris Fernandes; Carvalho de Andrade, Maria Denise Fernandes; Denzler, Inés María; Durand, Consuelo; Ribeiro, Erlane; Giugni, Juan Carlos; González, Gabriel; González Moron, Dolores; Guelbert, Guillermo; Hernández Rodriguez, Zulma Janneth; Embiruçu Emilia, Katiane; Kauffman, Marcelo Andrés; Mancilla, Nury Isabel; Marcon, Laureano; Marques Pereira, Alessandra; Fischinger Moura de Souza, Carolina; Muñoz, Victor Adrián; Naranjo Flórez, Ricardo Andrés; Pessoa, André Luiz; Ruiz, María Victoria; Solano Villareal, Martha Luz; Spécola, Norma; Tavera, Lina Marcela; Tello, Javiera; Troncoso Schifferli, Mónica; Ugrina, Sonia; Vaccarezza, María Magdalena; Vergara, Diane; Villanueva, María Mercedes

Corrigendum to "Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa." [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]

对“拉丁美洲经典型和非典型晚期婴儿神经元蜡样脂褐质沉积症:临床和遗传学方面以及使用塞利波酶α的治疗结果”的更正。[分子遗传学和代谢报告,第38卷(2024年)101060]

Guelbert, Norberto; Espitia Segura, Oscar Mauricio; Amoretti, Carolina; Arteaga Arteaga, Angélica; Atanacio, Nora Graciela; Bazan, Natacha Sabrina; Fernandes Carvalho, Ellaine Doris; Fernandes Carvalho de Andrade, Maria Denise; Denzler, Inés María; Durand, Consuelo; Ribeiro, Erlane; Giugni, Juan Carlos; González, Gabriel; González Moron, Dolores; Guelbert, Guillermo; Hernández Rodriguez, Zulma Janneth; Emilia, Katiane Embiruçu; Kauffman, Marcelo Andrés; Mancilla, Nury Isabel; Marcon, Laureano; Marques Pereira, Alessandra; Fischinger Moura de Souza, Carolina; Muñoz, Victor Adrián; Naranjo Flórez, Ricardo Andrés; Pessoa, André Luiz; Ruiz, María Victoria; Solano Villareal, Martha Luz; Spécola, Norma; Tavera, Lina Marcela; Tello, Javiera; Troncoso Schifferli, Mónica; Ugrina, Sonia; Vaccarezza, María Magdalena; Vergara, Diane; Villanueva, María Mercedes

Age-associated microenvironmental changes highlight the role of PDGF-C in ER+ breast cancer metastatic relapse

与年龄相关的微环境变化凸显了 PDGF-C 在 ER+ 乳腺癌转移性复发中的作用

Frances K Turrell, Rebecca Orha, Naomi J Guppy, Andrea Gillespie, Matthew Guelbert, Chris Starling, Syed Haider, Clare M Isacke

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

接受奥利普达酶α治疗长达2年的成人酸性鞘磷脂酶缺乏症患者的疾病表现持续改善:ASCEND试验的开放标签扩展研究

Wasserstein, Melissa P; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L; Yarramaneni, Abhimanyu; Armstrong, Nicole M; Kim, Yong; Kumar, Monica

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

南美-加勒比地区神经元蜡样脂褐质沉积症:流行病学概述

Guelbert, Guillermo; Venier, Ana Clara; Cismondi, Ines Adriana; Becerra, Adriana; Vazquez, Juan Carlos; Fernández, Elmer Andrés; De Paul, Ana Lucía; Guelbert, Norberto; Noher, Ines; Pesaola, Favio

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

CLN2疾病患者的诊断、临床评估、治疗和管理指南

Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

粘多糖贮积症IVA型患者酶替代疗法中断及其对不同临床结局的影响

Politei, Juan; Porras-Hurtado, Gloria Liliana; Guelbert, Norberto; Fainboim, Alejandro; Horovitz, Dafne Dain Gandelman; Satizábal, José María

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

塞利波酶α治疗CLN2疾病非典型表型:回顾性病例系列研究

Wibbeler, Eva; Wang, Raymond; Reyes, Emily de Los; Specchio, Nicola; Gissen, Paul; Guelbert, Norberto; Nickel, Miriam; Schwering, Christoph; Lehwald, Lenora; Trivisano, Marina; Lee, Laura; Amato, Gianni; Cohen-Pfeffer, Jessica; Shediac, Renée; Leal-Pardinas, Fernanda; Schulz, Angela