Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease

Issue title: Abstracts from the 7th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014

Article type: Research Article

Authors: Sacchini, M. | Procopio, E. | Pasquini, E. | Pochiero, F. | Ombrone, D. | LaMarca, G. | Catarzi, S. | Morrone, A. | Donati, M.A.

Affiliations: Metabolic and Muscular Unit, Neurosciences Department, Meyer Children's Hospital, Florence, Italy | Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Neurosciences Department, Meyer Children's Hospital, Florence, Italy | Laboratory of Molecular and Cell Biology, Meyer Children's Hospital, Florence, Italy

Note: [] Correspondence to: Michele Sacchini, Metabolic and Muscular Unit, Neurosciences Department, Meyer Children's Hospital, Florence, Italy. E-mail: [email protected]

DOI: 10.3233/JND-159047

Journal: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S53-S53, 2015