Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan

par Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida, Jovelle Fernandez
Publié 2021

A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

par Alícia Dorneles Dornelles, Ana Paula Pedroso Junges, Tiago Veiga Pereira, Bárbara Corrêa Krug, Candice Beatriz Treter Gonçalves, Juan Clinton Llerena, Priya Sunil Kishnani, Haliton Alves de Oliveira, Ida Vanessa Doederlein Schwartz
Publié 2021

Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

par Tsugumi Fukunaga, Shingo Nakayama, Takuo Hirose, Kishin Muramatsu, Akari Endo, Yuka Miyake, Go Anan, Ikuko Oba-Yabana, Atsuhiro Kanno, Hannah Nakamura, Junichi Tani, Kimitoshi Nakamura, Kazuhiro Sumitomo, Wako Yumura, Katsutoshi Furukawa, Takefumi Mori
Publié 2021

The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

par Asburçe Olgaç, Çiğdem Seher Kasapkara, Burak Açıkel, Yılmaz Yıldız, Gülhan Karakaya Molla, Mustafa Kılıç
Publié 2021

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

par Javier de las Heras, Ainara Cano, Ana Vinuesa, Marta Montes, María Unceta Suarez, Arantza Arza, Saioa Jiménez, Elena Vera, Marta del Hoyo, Miriam Gendive, Lizar Aguirre, Gisela Muñoz, Javier Fernández, Cynthia Ruiz-Espinoza, María Ángeles Fernández, José Miguel Galdeano, Irene Rodríguez, Lourdes Román, Amaya Rodríguez-Serna, Begoña Loureiro, Itziar Astigarraga
Publié 2021

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

par Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu
Publié 2021

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

par Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti
Publié 2021

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies:...

par Kazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, Takashi Hamazaki, Sairei So, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Publié 2021

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

par Ronen Bar-Yoseph, Galit Tal, Elena Dumin, Moneera Hanna, Gur Mainzer, Merav Zucker-Toledano, George Shallufi, Mira Jahshan, Hanna Mandel, Lea Bentur
Publié 2021