必应词典为您提供sandhoff-disease的释义,网络释义: 山德霍夫氏病;山德霍夫氏症;桑德霍夫病;
桑德霍夫病的英文名字是Sandhoff Disease。基因解码表明:佳学基因通过基因解码发现:桑德霍夫病是由基因突变引起的。这种疾病是由于HEXA基因的突变导致酸性神经酶酶A(hexosaminidase A)的缺乏,进而导致神经系统的异常发育和功能障碍。HEXA基因突变可以是遗传的,通常是由父母中的一个携带突变基因所致。
Sandhoff disease (SD) is a lysosomal storage disorder caused by a lack of a functional β-subunit of the β-hexosaminidase A and B enzymes, leading to the accumulation of gangliosides in the central nervous system (CNS). The Hexb-/- mouse model of SD...
Clinical and molecular characteristics of two Chinese children with infantile sandhoff disease and review of the literature[J]. J Mol Neurosci, 2020,70(4):481-487. DOI: 10.1007/s12031-019-01409-6 . 返回引文位置Google Scholar 百度学术 万方数据 [3] Smith NJ , Winstone AM , Stellitano L ...
您现在的位置:生物医药大词典 >> 通用词典 >> 词汇解释: Sandhoff's disease Sandhoff's disease分享到: 山多夫氏病分类: 医学 | 查看相关文献(pubmed) | 免费全文文献 详细解释:以下为句子列表:分享到: 赞助商链接 你知道它的英文吗? ·沙漠热 ·沙蛇 ·沙鼠 ·沙眼披衣菌 ·沙蚤 ·沙蚤病(沙蚤...
Although Sandhoff's disease is referred to as the "absent hexosa- some ( < l o % of has been detected in all tissues examined, predomi- nantly as a component similar to hexosaminidase A [12, 21, 29, 31, 391. In both Tay-Sachs and Sandhoff's Sandhoff's disease variant 629 ...
结论 Sandhoff病是一种罕见的遗传性溶酶体病,主要表现为进行性神经功能损害,目前缺乏有效的治疗方法,基因检测有助确诊及产前诊断.%Objective To summarize the clinical manifestations, diagnosis, and treatment of infantile Sandhoff disease. Methods The clinical data of one case with infantile Sandhoff disease ...
R. 1974. A new variant of Sandhoff's disease. Ped. Res., 8, 628.Spence MW, Ripley BA, Embil JA, Tibbles JA. A new variant of Sandhoff's disease. Pediatr Res. 1974;8:628 - 637SPENCE MW, RIPLEY BA, EMBIL JA, TIBBLES JAR: A new variant of Sandhoffs disease. Pediatr Res 8:628...
Sandhoff disease is a rare, genetic, lipid storage disorder characterized by progressive degeneration of the nerve cells (neurons) in the brain and spinal cord. This disease is caused by mutations in the beta-hexosaminidase beta-subunit (HEXB) gene. Here, we investigated the clinical characteristics...
Tay-Sachs Disease and Sandhoff Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.