Results 131 to 140 of about 1,301 (150)

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

New England Journal of Medicine, 2010
Ans T Van Der Ploeg, Paula R Clemens, Geert Jan Groeneveld   +2 more
exaly  

Recombinant human α-glucosidase from rabbit milk in Pompe patients

Lancet, The, 2000
Ans T Van Der Ploeg
exaly  

Quince años de la terapia enzimática en la enfermedad de Pompe

Revista de Neurología, 2021
openaire   +1 more source

A genetic modifier of symptom onset in Pompe disease

EBioMedicine, 2019
Atze Bergsma, Jan J A Van Den Dorpel, Nadine A M E Van Der Beek   +2 more
exaly  

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

Molecular Therapy, 2017
Andrea Elena Dardis, Emanuele Buratti
exaly  

Enfermedad de Pompe del adulto: análisis de 13 pacientes

Medicina Clínica
Paloma Martín-Jiménez, Laura Bermejo-Guerrero, Ana Hernandez-Voth, Ana Arteche-López, Aurelio Hernández-Lain, María Rabasa, Cristina Domínguez-González   +6 more
openaire   +1 more source

Replacing acid α-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers

Molecular Therapy, 2005
Abigail L Gilbert, Peter J Meikle
exaly  

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

Molecular Therapy, 2017
Priya S Kishnani, Majed Dasouki, Mazen M Dimachkie   +2 more
exaly  

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Human Mutation, 2008
Arnold J J Reuser
exaly  

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

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