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

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...

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Detalles Bibliográficos
Autores principales: Crossen, Kaylee, Berry, Lisa, Myers, Melanie F., Leslie, Nancy, Goueli, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326644/
https://www.ncbi.nlm.nih.gov/pubmed/35892473
http://dx.doi.org/10.3390/ijns8030043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326644/
https://www.ncbi.nlm.nih.gov/pubmed/35892473
http://dx.doi.org/10.3390/ijns8030043

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