好词典

fabry

UK //ˈfæbri//US //ˈfæbri//

词源

Named after Johannes Fabry and William Anderson, who independently described the disease in the late 19th and early 20th centuries.

noun

❶ 一种罕见的遗传性疾病,属于溶酶体贮积症,由α-半乳糖苷酶A酶缺乏引起,导致某些脂质在体内堆积。

“Fabry disease can affect multiple organs including the heart and kidneys.”

(法布里病可能影响包括心脏和肾脏在内的多个器官。)

“Early diagnosis of Fabry disease is crucial for effective treatment.”

(法布里病的早期诊断对有效治疗至关重要。)

同义词:Fabry disease, Anderson-Fabry disease, alpha-galactosidase A deficiency

常见短语

Fabry disease — 指法布里病,一种由基因突变引起的罕见遗传病,主要表现为神经系统、肾脏和心脏的症状。

“Fabry disease is inherited in an X-linked manner.”

(法布里病以X连锁方式遗传。)