| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833498 | Molecular Genetics and Metabolism | 2012 | 8 Pages |
Abstract
⺠A retrospective study on non-screened patients with Pompe disease was conducted. ⺠Health and functional status of Pompe patients at diagnosis was analyzed. ⺠The results suggest that all Pompe patients could benefit from earlier diagnosis. ⺠The potential of neonatal screening should be further explored.
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Authors
Tessel Rigter, Stephanie S. Weinreich, Carla G. van El, Juna M. de Vries, Carin M. van Gelder, Deniz Güngör, Arnold J.J. Reuser, Marloes L.C. Hagemans, Martina C. Cornel, Ans T. van der Ploeg,