نتایج جستجو برای: fabry disease
تعداد نتایج: 1493456 فیلتر نتایج به سال:
Title Page Title: How can we design effective instructions to promote transfer? Author(s): Hee Seung Lee, Shawn Betts, and John R. Anderson Hee Seung Lee Carnegie Mellon University [email protected] Shawn Betts Carnegie Mellon University [email protected] John R. Anderson Carnegie Mellon University [email protected]
BACKGROUND Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha-galactosidase, for which enzyme replacement therapy is now available. In this study, we aimed to identify Fabry heterozygotes not only for genetic counseling of families but because it is becoming increasingly obvious that many heterozygous (carrier) females are sympt...
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality life represent most co...
Echocardiography is the most common diagnostic tool to screen for Fabry cardiomyopathy as it fast, non-invasive, low-cost, widely available, easily applicable and reproducible. first-line investigation, being useful in all stages of disease: (1) gene-positive patients, unveil signs early cardiac involvement allowing timely treatment; (2) patients with overt estimate severity involvement, possib...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید