نتایج جستجو برای: gaucher type 1
تعداد نتایج: 3648308 فیلتر نتایج به سال:
Type I Gaucher disease, the subject of this article, was initially reported by Gaucher' in 1882 as a non-leukaemic splenic epithelioma. The biochemical defect, an autosomal recessively inherited lysosomal glucocerebrosidase enzyme deficiency, was delineated in 1965,2 3 and more recently the full length coding DNA sequence has been cloned and characterised.4 Gaucher disease is conventionally cla...
how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...
Type 1 Gaucher disease is currently categorized as non-neuronopathic, although recent studies suggest peripheral neurological manifestations. We report prevalence and incidence data for peripheral neuropathy and associated conditions from a multinational, prospective, longitudinal, observational cohort study in patients with type 1 Gaucher disease, either untreated or receiving enzyme replaceme...
BACKGROUND Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید