A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening

• Main Authors: Kaylee Crossen (Author), Lisa Berry (Author), Melanie F. Myers (Author), Nancy Leslie (Author), Cecilia Goueli (Author)
• Formato: Libro
• Publicado: MDPI AG, 2022-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have lat...