Late diagnsis of Fabry disease at the stage of cardiac involvement
نویسندگان
چکیده
A clinical case report of late diagnosis (in relation to manifestation) the classic phenotype Fabry disease in patient with cardiac involvement: phenocopy hypertrophy cardiomyopathy, arrhythmias and conduction abnormalities.
منابع مشابه
Fabry disease and its cardiac involvement
Fabry disease (FD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, renal, and cardiac manifestations in classical type of FD. The majority of patients with this diseas...
متن کاملthe role of application of dynamic assessment approach in improvement of iranian efl writing performance at different language proficiency levels
the present study sought to investigate the role of dynamic assessment (da) in improvement of iranian efl writing performance at different language proficiency levels. to this end, after conducting the quick placement test, 60 iranian efl learners were assigned to two groups with different language proficiency levels. in both groups each participant wrote two compositions, one before and one af...
The role of myocardial perfusion SPECT in short-term cardiac prognosis of end-stage renal disease
Introduction: One of the most important causes of death in patients with end-stage renal disease (ESRD) and even after kidney transplantation is cardiovascular diseases. Thus, cardiac evaluation is of utmost importance in the management of these patients especially during preoperative work up before renal transplantation. The aim of present study is to evaluate the role of myoc...
متن کاملMotor involvement in Fabry disease
We have read with great interest the article published by Wise and colleagues on the last issue of Molecular Genetics and Metabolism Reports [1]. The Authors performed a survey study investigating the prevalence of Parkinson Disease (PD) in individuals affected by Fabry Disease (FD), and found that 2 patients out of 90 (2.2%) were diagnosed with PD. Although considering all the limitations of t...
متن کاملconditional copula-garch methods for value at risk of portfolio: the case of tehran stock exchange market
ارزش در معرض ریسک یکی از مهمترین معیارهای اندازه گیری ریسک در بنگاه های اقتصادی می باشد. برآورد دقیق ارزش در معرض ریسک موضوع بسیارمهمی می باشد و انحراف از آن می تواند موجب ورشکستگی و یا عدم تخصیص بهینه منابع یک بنگاه گردد. هدف اصلی این مطالعه بررسی کارایی روش copula-garch شرطی در برآورد ارزش در معرض ریسک پرتفویی متشکل از دو سهام می باشد و ارزش در معرض ریسک بدست آمده با روشهای سنتی برآورد ارزش د...
ذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: ??????? ???????????
سال: 2021
ISSN: ['0373-658X']
DOI: https://doi.org/10.35336/va-2021-1-64-67