Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon

This is the authors' abstract. We don't add key points for this paper.

)or variant(s) of unknown significance. These identified newborns were evaluated at the Oregon Health & Science University (OHSU) metabolic clinic in Portland, Oregon. However, due to the COVID-19 pandemic, clinicians had to pivot from in-person to virtual visits and triage on acuity, which impacted the time to diagnosis. Of referred babies, 3 are currently receiving treatment for their detected LSD. Over 50 babies have an inconclusive or possible late onset diagnosis with uncertain timeline for development of symptoms.