A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>/;G IVS splice site mutation


Conference Paper

Full Text

Duke Authors

Cited Authors

  • Bailey, LA; Rairikar, M; Desai, A; Kazi, Z; Case, L; Kishnani, P

Published Date

  • January 2017

Published In

Volume / Issue

  • 120 / 1-2

Start / End Page

  • S24 - S24

Published By

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2016.11.031