نتایج جستجو برای: fabry
تعداد نتایج: 6280 فیلتر نتایج به سال:
The characteristics of diffraction efficiency and resolution of dichromated gelatin films derived from Agfa 8E75 HD plates by modified preparing and processing methods are presented. Using these films, fabricating of holographic Fabry-Perot etalon has been demonstrated and characteristic fringes of the Fabry-Perot effect have been observed.
storage disorders such as Fabry disease, standardized screening for particular biomarkers is beginning to be considered a useful tool for diagnostics [6]. Future screening studies may help to identify Fabry patients that would gain immediate benefit from diagnosis. Screening for this disease is particularly timely in Canada, where a comparative clinical trial of currently approved ERT drugs is ...
Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as...
BACKGROUND Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs. MATERIALS AND METHOD A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, thi...
OBJECTIVE The long-term effects of enzyme-replacement therapy (ERT) in Fabry disease are unknown. Thus, the aim of this study was to determine whether ERT in patients with advanced Fabry disease affects progression towards 'hard' clinical end-points in comparison with the natural course of the disease. METHODS A total of 40 patients with genetically proven Fabry disease (mean age 40 ± 9 years...
BACKGROUND Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs and may be the first non-invasive measure of myocyte sphingolipid storage. The relationship of native T1 lowering prior to hypertrophy and other candidate early phenotype markers are unknown. Furthermore, the reproducib...
BACKGROUND AND PURPOSE Fabry disease is an X-linked inherited disorder resulting from a deficiency of alpha-galactosidase A. Cerebrovascular disease in Fabry disease includes small-vessel disease and larger-vessel ectasia in a predominantly posterior distribution. We assessed transcranial Doppler (TCD) blood flow velocities in naive and enzyme-treated Fabry patients. METHODS TCD was used to n...
More than a hundred years ago, in 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, independently reported on patients with multiple angiokeratomas as well as some other symptoms. Today, the disease is called Anderson-Fabry or only Fabry disease, or angiokeratoma corporis diffusum, the latter being more often found in dermatologic literature. Fabry disease is ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید