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Diagnostic algorithm for evaluation after a positive newborn screen for Pompe disease with DNA sequencing

Part of the NBS laboratory protocol. (Modified from: Burton BK, Kronn DF, Hwu WL, Kishnani PS; Pompe Disease Newborn Screening Working Group. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. Pediatrics 2017;140[Suppl 1]:S14-23.)

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  • Acid alpha-1,4- and alpha-1,6-glucosidase deficiency
  • Acid maltase deficiency
  • Cardiomegalic Pompe disease
  • Infantile Pompe disease
  • Intracranial aneurysms
  • Late-onset Pompe disease
  • Pompe disease
  • Pompe disease, myopathic form
  • Respiratory insufficiency