Associated Papers
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient.
Deodato F et al.
Journal of Child Neurology, 2014
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
Select a paper to view details