Clinical diagnostics of fibrillinopathies (type 1)

نویسندگان

چکیده

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

clinical manifestations of type 1 gaucher disease

how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp.   gaucher’s diseas...

متن کامل

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. This report describes the clinical and genetic findings of 18 years of NF1 molecular diagnostics in the Netherlands. A pathogenic mutation was found in 59...

متن کامل

Myotonic Dystrophy Type 1 Diagnostics: A Changing Trend

Myotonic dystrophy type 1 or Steinert’s disease is the most common form of adult muscular dystrophy affecting multiple systems with a wide spectrum of phenotypes. This paper focuses on the different methods to diagnose myotonic dystrophy type 1 that have been used over the years and the various modifications that have been made to the previous diagnostics. The different diagnostic assays and th...

متن کامل

1 Lipidomics Perspective : From Molecular Lipidomics to Validated Clinical Diagnostics

Lipids are recognized as extremely diversified molecules, with nearly 10 different structures of lipids currently being stored in the most comprehensive lipid structure database (LIPID MAPS, http://www.lipidmaps.org). The complexity is confounded by the fact that the absolute quantity of individual molecular lipids can differ among lipid species up to several million-fold depending on the matri...

متن کامل

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: Russian Journal of Cardiology

سال: 2013

ISSN: 1560-4071

DOI: 10.15829/1560-4071-2013-2-89-93