wolman disease基本解释 沃尔曼病 分词解释 wolman沃尔曼 disease疾病 猜你喜欢 kidney disease[医]肾脏疾病 acute disease急性病 allergic disease变应(过敏)性病 alzheimer disease阿尔茨海默病 alzheimer's disease阿尔茨海默氏病,早老性痴呆病 autoimmune disease自身免疫性疾病 cardiac disease心脏(疾)病 cardiovascular ...
开场与背景介绍我要向大家介绍一种罕见的遗传性疾病——Wolman病(WolmansDisease)。在开始之前,请允许我简要地介绍一下这种疾病的背景开场背景介绍Wolman病是一种罕见的、遗传性的、脂质代谢障碍性疾病。该病的特点是患者体内缺乏脂蛋白脂酶(LPL),导致大量脂肪在组织中积聚,引起全身性的临床表现。患者主要表现包括严重...
Wolman disease (WD) is an autosomal recessive storage disorder caused by very low (or absent) lysosomal acid lipase (LAL) activity. Deficiency of this enzyme leads to massive intracellular accumulation of cholesteryl esters and triglycerides. WD represents the severe form of LAL deficiency in which...
罕见的单基因遗传病之Wolman disease 在我的门诊中,有一个家庭的情况让我记忆深刻,在这个家庭中发生的疾病虽然罕见,但是危害性极高。该家庭曾育一女儿,于出生后2个月夭折,再次妊娠生育一个男孩,于出生后1月夭折,患者主要表现为腹部大,呕吐及腹泄频繁,发热后夭折。在经历了两次痛苦的生育经历,该家庭最终诊断为Wolm...
Wolman disease successfully treated by bone marrow transplantation . Bone Marrow Transplant 2000; 26 :567–570.Krivit W, Peters C, Dusenbery K, et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant 2000; 26(5): 567-70. [http://dx.doi.org/10.1038/...
网络沃尔曼病;性黄色瘤伴肾上腺钙化;氏症 网络释义
讨论:Wolman disease(WD)是罕见的常染色体隐性遗传代谢病,在1956年由国外学者wolman首先报道[1]。目前仅国外文献报道50余例,国内文献未见报道[2]。WD常常在婴幼儿期起病,出生的新生儿中发病率为1/350,000 [3]。它是由位于10号染色体长臂23区2带 – 3带的溶酶体胆固醇酯酸性脂肪酶基因(LIPA基因)突变造成所编码...
Cholesteryl Ester Storage Disease and Wolman Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
讨论:Wolmandisease(WD)是罕见的常染色体隐性遗传代谢病,在1956年由国外学者 wolman首先报道 [1] 。目前仅国外文献报道50余例,国内文献未见报道 [2] 。WD常常在婴幼 儿期起病,出生的新生儿中发病率为1/350,000 [3] 。它是由位于10号染色体长臂23区2带– ...
Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aim...