نتایج جستجو برای: niemann
تعداد نتایج: 2304 فیلتر نتایج به سال:
Niemann Pick C2 (NPC2) is a small glycoprotein involved in cellular trafficking of cholesterol. Its dysfunction causes accumulation cholesterol the lysosomal organelles, hallmark type C disease. Therefore, understanding transport and mechanism that may result essential to understand occurrence this neurodegenerative Cholestatrienol (CTL) fluorescent sterol widely used as an alternative because ...
Lizosom mübadilə xəstəliyindən şübhəli iki eyni yumurta ekizi qızların qanından istifadə edilmişdir. Diaqnostik məqsədlə yeni nəsil sekvenləşdirmə - NGS metodundan və diaqnostik amplikon panelindən isrifadə panel: Krabbe xəstəliyini, mukopolisaxaridoz II tip (Xanter xəstəliyi), Niemann-Pick IV Tip (Morkio Fabri çoxsaylı sulfataza defisitini, Qoşe qanqliozidazanı, 1 (Qurler xəstəliyini), mukopol...
The cholesterol content of the sperm membrane is regulated during both maturation in the epididymis and capacitation in the female tract, two processes required for the spermatozoa to acquire their fertilising ability. Because Niemann-Pick disease, type C2 (NPC2) protein is one of the most abundant components of the epididymal fluid and contains a functional cholesterol-binding site that can tr...
Niemann–Pick C (NPC) disease is rare, neurodegenerative, lysosomal cholesterol storage disorder. Diagnosis of the disease is often delayed due to disease heterogeneity, non-specific early visceral and neurological symptoms, and lack of a rapid and reliable diagnostic assay. As a result, the disease progresses and opportunities to intervene tragically are lost. Until recently, the principal diag...
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