Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Abstract excerpt

CONTEXT: Late-onset Pompe disease (LOPD) is a lysosomal disease characterized by progressive weakness primarily in skeletal and respiratory muscles with symptom onset ranging from infancy to adulthood. The distinguishing feature between infantile-onset Pompe disease (IOPD) and LOPD is the absence of cardiomyopathy in the first year of life in LOPD. Newborn screening (NBS) has facilitated earlier detection,...

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