[Propionic acidemia: clinical diagnosis vs newborn screening].
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DOI: 10.5546/aap.2020.e53
Abstract: Propionic acidemia is a rare metabolic disease (prevalence 1/100,000) that can be early detected with the newborn metabolic screening within the first 72 hours of life. It can have a severe neonatal presentation, a late… read more here.
Keywords: propionic acidemia; clinical diagnosis; newborn screening; acidemia clinical ... See more keywords