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

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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Bibliographic Details
Main Authors: Kaylee Crossen, Lisa Berry, Melanie F. Myers, Nancy Leslie, Cecilia Goueli
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:International Journal of Neonatal Screening
Subjects:
Pompe disease
late-onset Pompe disease
newborn screening
pre-symptomatic patients
parent perspectives
medical management
Online Access:https://www.mdpi.com/2409-515X/8/3/43

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