Public support for neonatal screening for Pompe disease, a broad-phenotype condition
<p>Abstract</p> <p>Background</p> <p>Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic...
Main Authors: | Weinreich Stephanie, Rigter Tessel, van El Carla, Dondorp Wybo, Kostense Pieter, van der Ploeg Ans T, Reuser Arnold JJ, Cornel Martina, Hagemans Marloes |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2012-03-01
|
Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://www.ojrd.com/content/7/1/15 |
Similar Items
-
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
by: van der Beek Nadine AME, et al.
Published: (2012-11-01) -
Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?
by: Hanae Aouraghe, et al.
Published: (2022-07-01) -
IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy
by: Qiushi Liang, et al.
Published: (2022-12-01) -
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
by: de Vries Juna M, et al.
Published: (2012-09-01) -
Hypoglossal neuropathology and respiratory activity in Pompe mice
by: Kun-Ze eLee, et al.
Published: (2011-06-01)