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

• Egile Nagusiak: Hanae Aouraghe (Egilea), Mohammed Radouani (Egilea), Ilham Elouardighi (Egilea), Asmaa Dibi (Egilea), Amina Barkat (Egilea)
• Formatua: Liburua
• Argitaratua: Mashhad University of Medical Sciences, 2022-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...