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

• 主要な著者: Hanae Aouraghe (著者), Mohammed Radouani (著者), Ilham Elouardighi (著者), Asmaa Dibi (著者), Amina Barkat (著者)
• フォーマット: 図書
• 出版事項: Mashhad University of Medical Sciences, 2022-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...