The following is a summary of “Cutaneous manifestations of Fabry disease: A systematic review,” published in the March 2025 ...

Julia Alton was 18 years old when she lost her dad to the same disease he had passed on to her. Fabry disease is a rare metabolic disorder that affects many parts of the body. According to Dr. Michael ...

Amicus Therapeutics’ first oral drug for the rare condition Fabry disease has been approved by the FDA, giving patients an alternative to conventional injected enzyme replacement therapy.

Brian has Fabry disease, a lysosomal storage disorder that can cause a variety of symptoms. Start the day smarter. Get all the news you need in your inbox each morning. “It's a condition where ...

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism characterized by progressive lysosomal deposition of partially metabolized substrates ...

让我们先来看一个真实的案例。一位47岁的女性患者，主诉蛋白尿20余年，最终被诊断为法布雷病合并慢性肾脏病。她曾接受过多次手术，包括卵巢囊肿术、畸胎瘤术、心肌肥厚切除术和永久性双腔起搏器植入术。她的病情复杂，涉及多个器官系统，包括肾脏、心脏、皮肤等。

法布雷病（Fabry disease，FD），一种罕见的遗传性溶酶体贮积病，因GLA基因突变导致其编码的α-半乳糖苷酶A活性降低，进而导致三己糖酰基鞘脂醇（GL-3）及其衍生物在多个器官内贮积，造成患者健康严重损害。这种病在全世界的发病率约为1/100000，是一种可致命的疾病，尤其是肾脏、心脏和神经系统的损伤严重影响了患者的生活质量。更令人痛心的是，法布雷病已被列入中国首批罕见病目录，而因其罕见 ...

Chiesi GRD has an initial focus in developing therapies for lysosomal storage disorders (LSDs), including Fabry disease, as well as other rare diseases in haematology and opthalmology indications.