Results 131 to 140 of about 135,809 (156)

Enfermedad de Pompe

Medicina Clínica
José César Milisenda, Ana Matas-García   +1 more
openaire   +1 more source

1160 - CARACTERÍSTICAS CLÍNICAS INICIALES DE LOS PACIENTES CON ENFERMEDAD DE POMPE DE INICIO TARDÍO EN ESPAÑA

Revista clínica española (Ed. impresa)
Sofía Viñola Hernández, Sofía Salavert Pamblanco, Elena Resa Ruiz, María Civera Barrachina, María Edo Alegre, Marina Garcés, A. G. Belda, A. A. Mora   +7 more
semanticscholar   +1 more source

Enfermedad de Pompe, Guía de diagnostico y manejo

2008
Canchila, Gladys, Castellanos, Jorge, Yeny Cuellar, Izquierdo, Alvaro, Gama, María, Danitza Madero, Mateus, Heidy, Muñoz, Ximena, Ospina, Sandra, Uribe, Alfredo, Valencia, Leon, Vásquez, Catalina   +11 more
openaire   +1 more source

Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

Nature Communications, 2017
Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara   +2 more
exaly  

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

Science Translational Medicine, 2017
Francesco Puzzo, Pasqualina Colella, Maria G Biferi   +2 more
exaly  

Pompe Disease: From Basic Science to Therapy

Neurotherapeutics, 2018
Rosa Puertollano, Nina Raben
exaly  

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Nina Raben
exaly  

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

Journal of Neurology, 2016
Benedikt Schoser, Steve Kanters, Mohammad Karamouzian   +2 more
exaly  

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

Autophagy, 2015
Jeong-A Lim, Lishu Li, Nina Raben
exaly  

Quince años de la terapia enzimática en la enfermedad de Pompe

Revista de Neurología, 2021
openaire   +1 more source