Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?

• Main Authors: Hanae Aouraghe (Author), Mohammed Radouani (Author), Ilham Elouardighi (Author), Asmaa Dibi (Author), Amina Barkat (Author)
• Format: Book
• Published: Mashhad University of Medical Sciences, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid. This enzyme allows the hydrolysis of lysosomal glycogen. Patients with infantile-onset P.D. (I...