ALGLUCOSIDASE
National Institutes of Health
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Background
Pompe disease is a neuromuscular disease caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) which…
Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism which involves abnormal glycogen…
ABSTRACT Introduction: After 10 years of alglucosidase alfa therapy of Pompe disease, elements of the disease remain unsolved e.g…
Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (alglucosidase alfa 20…
Pompe disease is a progressive lysosomal disease caused by alpha-glucosidase deficiency which recently became amenable to…
1323 In the US, there’s expectation that legislation around biogenerics could reach the President’s desk this year. “It’s…
1323 In the US, there’s expectation that legislation around biogenerics could reach the President’s desk this year. “It’s…
(1) Pompe disease is the early-onset form of type 2 glycogenosis, a rare enzyme deficiency. Onset occurs in early infancy, and…