Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Published

Conference Paper

Full Text

Duke Authors

Cited Authors

  • Austin, S; Rairikar, M; Case, L; Bailey, L; Kazi, Z; Desai, A; Berrier, K; Coats, J; Gandy, R; Quinones, R; Kishnani, P

Published Date

  • February 2018

Published In

Volume / Issue

  • 123 / 2

Start / End Page

  • S21 - S21

Published By

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2017.12.027