acid maltase deficiency

Amicus Therapeutics' experimental drug AT2220 has enhanced enzyme replacement therapy in a phase 2 trial in Pompe disease and is slated for further development

posted on February 15, 2013 - 4:29pm
The experimental drug AT2220 has shown benefit as an enhancer of enzyme replacement therapy for the metabolic muscle disorder Pompe disease (acid maltase deficiency). The drug, a pharmacological chaperone, is designed to:

News briefs about research in Charcot-Marie-Tooth disease, hereditary inclusion-body myositis, limb-girdle muscular dystrophy, myotubular/centronuclear myopathies and Pompe disease

posted on March 31, 2011 - 10:20am
Charcot-Marie-Tooth disease

News about research in congenital myasthenic syndromes, Duchenne and limb-girdle muscular dystrophies, Pompe disease and induced pluripotent stem cells

posted on February 25, 2011 - 2:34pm
Congenital myasthenic syndromes A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).