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

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.

Gaucher disease is a genetic disorder when the body is unable to break down certain fats, leading to fat accumulation in the ...

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.

Chardan took over coverage of uniQure (QURE) with a Buy rating and price target of $38. The analyst, who cites the potential of the company’s ...

Amicus Therapeutics, Inc. (NASDAQ:FOLD – Get Free Report) has received a consensus rating of “Moderate Buy” from the nine research firms that are currently covering the firm, MarketBeat reports. Two ...

Sanofi's Qfitlia gains FDA approval, offering fewer injections in hemophilia care. Check out my recommendation for SNY stock.

Sangamo Therapeutics, Inc.’s SGMO share price has dipped by 13.07%, which has investors questioning if this is right time to buy.

D Molecular Therapeutics, Inc.’s FDMT share price has dipped by 10.90%, which has investors questioning if this is right time to buy.