how we can put forward the diagnosis of npc disease: suspicion index

نویسندگان

mahmoud reza ashrafi 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran

alireza tavasoli 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran

چکیده

how to cite this article: ashrafi mr, tavasoli ar. how we can put forward the diagnosis of npc disease: suspicion index. iran j child neu rol. 2015 autumn;9:4(suppl.1): 2-4. pls see pdf.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

new npc suspicion index :

np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

متن کامل

How can we enhance the value of laboratory tests?

Today, the pressures on the healthcare systems for the controlling of the costs are extreme and all sectors try to demonstrate the value of their services by justifying the activities and expenditures so the value can be describe in terms like quality, efficiency, effectiveness, patient satisfaction, cost effectiveness .The value of the lab testing is generally directed to their costs and the c...

متن کامل

Commentary: how can we make diagnosis safer?.

Diagnostic errors are common and are a leading cause of patient dissatisfaction and malpractice suits. Because of its traditional heavy reliance on memory and lack of standardization, the diagnostic process is particularly error prone. A study by Zwaan and colleagues on diagnostic failures in treating dyspneic patients makes several important contributions: examining the process behind the diag...

متن کامل

The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis

1 Manchester Academic Health Science Centre (MAHSC), Salford Royal NHS Foundation Trust, University of Manchester, Manchester, UK, and University of Pretoria, Steve Biko Academic Hospital, Department of Paediatrics and Child Health, Pretoria, South Africa 2 Fundació, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, CIBERER, Instituto de Salud Carlos III, Barcelona, Sp...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
iranian journal of child neurology

جلد ۹، شماره ۴، صفحات ۲-۴

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023