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

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 new natural...

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Dettagli Bibliografici
Pubblicato in:Acta Neuropathol Commun
Autori principali: Hordeaux, J., Dubreil, L., Robveille, C., Deniaud, J., Pascal, Q., Dequéant, B., Pailloux, J., Lagalice, L., Ledevin, M., Babarit, C., Costiou, P., Jamme, F., Fusellier, M., Mallem, Y., Ciron, C., Huchet, C., Caillaud, C., Colle, M-A
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585940/
https://ncbi.nlm.nih.gov/pubmed/28874182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-017-0464-2
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