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Late-onset Pompe Disease is Not Very Late

FEBRUARY 16, 2017
Lauren Bailey



Lauren Bailey, MS, CGC at Duke University talks about their recent study in which 5 babies were diagnosed with late-onset Pompe disease via newborn screening who began to show symptoms in the first few years of life. 

Reference

Bailey LA, Rairikar M, Desai A, et al.A newborn screening dilemma: when to treat Pompe disease with c.-32-13T >/; G IVS splice site mutation. Presented at WORLDSymposium; San Diego, CA; February 13-16, 2017.


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