5) Spinal muscular atrophy 脊髓性肌萎缩症 1. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy; 脊髓性肌萎缩症SMN1基因定量研究及基因携带者的筛查(英文) 2. Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography; 应用变性...
Clinical features of adult spinal muscular atrophySMFigurelimshowBACKGROUND: Spinal muscular atrophy (SMA) is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type...
adult-chronic-proximal-spinal-muscular-atrophy网络成人慢性近端脊肌萎缩症 网络释义 1. 成人慢性近端脊肌萎缩症 ... adult chronic proximal spinal muscular atrophy [医]成人慢性近端脊肌萎缩症 anaemic spinal disease 亚急性混合变性 ... www.fastdict.net|基于1 个网页©...
Functional classification and orthopaedic management of spinal muscular atrophy The majority of patients with chronic infantile and juvenile forms of spinal muscular atrophy survive to adult life. Forty-four patients have been reviewed at an average of 17 years after diagnosis. The subdivision of patient...
Ah Cong (R), a rare genetic spinal muscular atrophy (SMA) patient, is administered an injection of SPINRAZA, an SMA treatment. Zhang Guogao Ah Cong had been waiting for 10 years for the SMA treatment. At the beginning of this year,...
In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has...
Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult-onset (type IV...
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This study aimed to examine feasibility of inspiratory muscle strength tests, such as maximal inspiratory pressure (MIP) and sniff nasal inspiratory pressure (SNIP) in adult patients affected by spinal muscular atrophy (SMA), as well as their ability, along with forced vital capacity (FVC), to ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook eczema (redirected fromAdult seborrhoeic eczema) Thesaurus Medical Encyclopedia ec·ze·ma (ĕk′sə-mə, ĕg′zə-, ĭg-zē′-) n. A noncontagious inflammation of the skin, characterized chiefly ...