Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

Abstract Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a ne...

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Bibliographic Details
Main Authors: J. Hordeaux, L. Dubreil, C. Robveille, J. Deniaud, Q. Pascal, B. Dequéant, J. Pailloux, L. Lagalice, M. Ledevin, C. Babarit, P. Costiou, F. Jamme, M. Fusellier, Y. Mallem, C. Ciron, C. Huchet, C. Caillaud, M-A Colle
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Acta Neuropathologica Communications
Subjects:
Pompe disease
Gene therapy
CNS
Intra-cerebrospinal fluid injection
Online Access:http://link.springer.com/article/10.1186/s40478-017-0464-2

Internet

http://link.springer.com/article/10.1186/s40478-017-0464-2

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