Fabry Disease - literature review

• 主要な著者: Krystian Wdowiak (著者), Agnieszka Maciocha (著者), Julia Wąż (著者), Aleksandra Witas (著者), Adrian Muzyka (著者), Julia Rydzek (著者), Ewa Gardocka (著者)
• フォーマット: 図書
• 出版事項: Kazimierz Wielki University, 2024-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common. It results from deficient alpha-galactosidase activity, leading to the accumulation of globotriaosylceramide (Gb3), causing inflam...