法布里病(fabrys disease)即血管角质瘤综合征或安德森-法布里病(andeson-fabry disease),或α-半乳糖苷酶a缺乏病(alpha-galactosidase a deficiency),是一种多器官多系统疾病,包括皮肤病变、神经系统病变、如无汗症、肢端感觉异常、心血管病变、眼部病变、其他如贫血,淋巴组织增生,肝脾肿大,骨无菌性坏死,肌病及低丙种...
法布里病(Fabry Disease)是一种由基因突变引起的罕见遗传性代谢疾病,属于溶酶体贮积症(Lysosomal Storage Disorders, LSDs)的一种。该病的主要特征是由于体内特定酶的缺乏,导致代谢废物在细胞内异常积累,进而损害多个器官系统。 法布病里是一种X染色体连锁隐性遗传病,男性患者症状通常更为严重,而女性患者则可能表现为...
法布里病(Fabry disease, OMIM#301500),即安德森-法布里病(Anderson-Fabry disease),1898年分别由两位皮肤科医生William Anderson(德国)和Johannes Fabry(英国)最早报道,由此得名,该病是一种罕见的X伴性遗传的溶酶体贮积症。目前已被列入2018年发布的第一批罕见病目录中所列疾病...
α-半乳糖苷酶 - 法布里病中的缺陷蛋白 法布里病,也称为安德森 - 法布里病,是一种罕见的遗传性疾病,可以影响身体的许多部位,包括肾脏,心脏和皮肤。[1]法布里病是称为溶酶体贮积病的一组病症之一。导致法布里病的基因突变干扰了处理称为鞘脂的生物分子的酶的功能,...
Fabry disease 法布雷病(Fabry disease)是一种罕见的X连锁遗传性疾病,由于X染色体长臂中段编码α-半乳糖苷酶A(α-Gal A)的基因突变,导致其结构和功能异常,使其代谢底物三已糖神经酰胺(GL-3)和相关鞘糖脂在全身多个器官内大量堆积所导致的临床综合征。 1898年,德国医生Fabry和英国医生Anderson首次发现并命名。据国...
Fabry diseaseIt is incumbent upon physicians evaluating men with unexplained left ventricular hypertrophy—particularly those without severe outflow tract obstruction—to consider Fabry disease in the differential diagnosisS F NaguehHeart : official journal of the British Cardiac Society...
Fabry disease 法布雷病(Fabry disease)是一种罕见的X连锁遗传性疾病,由于X染色体长臂中段编码α-半乳糖苷酶A(α-Gal A)的基因突变,导致其结构和功能异常,使其代谢底物三已糖神经酰胺(GL-3)和相关鞘糖脂在全身多个器官内大量堆积所导致的临床综合征。
释义 法布里病 实用场景例句 全部 What other treatments have been used toFabry Disease? 什么其他治疗方法已被用于治疗法布里病? 互联网 My child was picked up by neonatal screening forFabry diseasebecause of low enzyme activity. 我的小孩因为接受法布瑞氏症新生儿筛检,发现其酵素活性偏低. ...
Fabry disease is a lysosomal storage disorder caused by mutations in the galactosidase alpha gene (GLA), which leads to deficient alpha-galactosidase A (α-Gal A) enzyme activity, which is necessary for metabolizing globotriaosylceramide (Gb3). The buildup of Gb3 in the cells can cause seri...
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, which lead to an accumulation of fatty molecules, mainly globotriaosylceramide (Gb3), within cells.This accumulation results in progressive organ damage, particularly to the heart, kidneys, and nervous system, ...