نتایج جستجو برای: gaucher disease
تعداد نتایج: 1490299 فیلتر نتایج به سال:
Sir, McNeill highlights in his Letter to the Editor that glucocerebrosidase (GBA) gene mutation carriers have reduced glucosylceramidase protein and enzyme activity based on measurements obtained from patient fibroblasts (McNeill et al., 2014). He links this to our data recently presented in Murphy et al. (2014) identifying similar findings in brain regions associated with increased a-synuclein...
BACKGOUND Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain secondary to skeletal involvement but it is described even in the absence of bone disease without a clear explanation. In the last years an increasing numbe...
Gaucher disease is an autosomal recessively inherited lysosomal storage disease that results from the defective activity of the enzyme acid β-glucosidase (glucocerebrosidase). Velaglucerase alfa was recently developed and approved as an alternative form to imiglucerase enzyme therapy. Despite differences in primary structure and glycosylation patterns, recent preclinical and clinical trials of ...
List of abbreviations Executive summary Background Objectives Methods Results Conclusions Recommendations for research Funding Chapter 1 Background Lysosomal storage disorders Summary of lysosomal storage disorders investigated in this study Patterns of treatment in England Rationale for the cohort study Background and objectives Chapter 2 Methods Study procedures Data collection Methods used i...
Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations. Various treatments for Gaucher disease are available, including enzyme replacement and chaperone therapies. The latter involves binding of co...
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