Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective

• Main Authors: Raymond Saich (Author), Renee Brown (Author), Maddy Collicoat (Author), Catherine Jenner (Author), Jenna Primmer (Author), Beverley Clancy (Author), Tarryn Holland (Author), Steven Krinks (Author)
• Format: Book
• Published: MDPI AG, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die wit...