Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases
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DOI: 10.4238/gmr16039844
Abstract: When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α-glucosidase pseudo deficiency from true Pompe disease is important and urgent, as the result generates parental stress and… read more here.
Keywords: acid glucosidase; pseudo deficiency; newborn screening; pompe ... See more keywords