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Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement
Amyloid The Journal of Protein Folding Disorders, 11/02/07
Kristen, A.V., et al. - A 63-year-old Caucasian male, diagnosed with dilated cardiomyopathy in 1993, remained clinically stable for several years. In 2003, a marked increase of N-terminal pro-natriuretic peptide serum level (611 ng/ml to 4926 ng/ml) was observed; left ventricular (LV) septum thickness was 10 mm. In addition, sensorimotor polyneuropathy and autonomic dysfunction occurred. Further progression of heart failure occurred despite unchanged systolic LV function. Endomyocardial biopsy in 2006 revealed transthyretin amyloidosis by Congo red and immunohistochemical staining, as well as Val94Ala substitution by transthyretin gene analysis
Today in Amyloidosis...keeping you current
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MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations
Rheumatology International, 10/16/09
Classification of amyloidosis by laser microdissection and mass spectrometry based proteomic analysis in clinical biopsy specimens
Blood, 10/09/09
Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia
Medical Principles and Practice, 10/05/09
Today in Diagnostics/Radiology...keeping you current
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Laboratory investigation in the diagnosis of vasculitis
Current Rheumatology Reports, 12/09/09
Echocardiography as an Outcome Measure in Scleroderma-related Pulmonary Arterial Hypertension: Results of a Systematic Literature Analysis by the EPOSS Group
Journal of Rheumatology, 12/08/09
Is there any relationship between serum and urine neopterin and serum interferon-gamma levels in the activity of Behcet's disease?
Journal of the European Academy of Dermatology and Venereology, 12/04/09
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