Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease

• 主要な著者: Lina Fiege (著者), Ibrahim Duran (著者), Thorsten Marquardt (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2023-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment. Since 2006, enzyme replacement therapy (ERT) with Al...