Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

• Auteurs principaux: Allison M. Jay (Auteur), Premchand Anne (Auteur), David Stockton (Auteur)
• Format: Livre
• Publié: Hindawi Limited, 2019-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Ide...