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Developing Therapy for Transthyretin Amyloidosis
The American Journal of Medicine, 2022Transthyretin amyloidosis (ATTR) is an under-recognized cause of cardiomyopathy and neuropathy. Until recently, there were limited therapeutic options for ATTR. However, new therapeutics, including tafamidis, patisiran, and inotersen, increase both quality and length of life in patients with ATTR.
Courtney M, Campbell +3 more
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Hereditary transthyretin amyloidosis: current treatment
Current Opinion in Neurology, 2020Purpose of review Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. Until recently only early stages of ATTRv-PN (polyneuropathy) had access to disease-modifying therapy (DMT), whereas there was no specific treatment for ATTRv-CM (cardiomyopathy).
David, Adams, Michel, Slama
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Pathogenesis of transthyretin amyloidosis
Amyloid, 2012Current dogma for transthyretin (TTR) pathogenesis is that mutations in TTR alter its structure such that the tetramer becomes unstable and prone to release of monomer which then becomes the putative building block of the fibril. This hypothesis is supported by thermodynamic data showing decreased stability of mutant TTR tetrameric proteins and ...
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Tafamidis for transthyretin amyloidosis
Drugs of Today, 2012Tafamidis meglumine (Vyndaqel®, Pfizer) is a novel, first-in-class drug for the treatment of transthyretin familial amyloid polyneuropathy (TTR-FAP), a rare neurodegenerative disorder characterized by progressive sensory, motor and autonomic impairment that is ultimately fatal.
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Laboratory Assessment of Transthyretin Amyloidosis
Clinical Chemistry and Laboratory Medicine, 2002Mutations in transthyretin (TTR) are the most common cause of autosomal dominant systemic amyloidosis. To date, more than 80 TTR mutations have been associated with amyloidosis in humans. A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients ...
Merrill D, Benson +2 more
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Hereditary Transthyretin Amyloidosis Polyneuropathy
Seminars in NeurologyAbstractIn the last decade, we have witnessed dramatic improvements in the diagnosis, workup, management, and monitoring of patients with hereditary transthyretin amyloidosis (ATTRv). Updated imaging techniques (e.g., 99mTc-PYP scan) are increasingly being used in place of tissue biopsies for confirmation of disease.
Taha, Qarni +3 more
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[Ten questions about transthyretin amyloidosis].
Giornale italiano di cardiologia (2006), 2022Systemic amyloidosis is a hereditary or acquired disease characterized by deposition of amyloid insoluble fibrils into body organs and tissues, causing structural abnormalities and organ dysfunction, i.e. heart failure. This disease is classified according to the precursor protein involved; immunoglobulin light chains, transthyretin and apolipoprotein ...
Giovannetti A. +13 more
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Isolated transthyretin valvular amyloidosis
European Heart Journal, 2023Yi-Tsang Fu, Ling Kuo, Wen-Chung Yu
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[Familial transthyretin amyloidosis].
Klinicheskaia meditsina, 2010A case of familial transthyretin amyloidosis with TTR Cys 114 gene polymorphism is described (first in Russia and third in the world). The clinical picture of the proband was dominated by symptoms of autonomous polyneuropathy (orthostatic hypotension, erectile dysfunction, diarrhea, tachycardia, foot dyshydrosis) and of somatic nerve lesions (dumbness,
A P, Pogromov +6 more
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Vutrisiran for Transthyretin Amyloidosis Cardiomyopathy
Current Vascular PharmacologyAngelica Lehker, Debabrata Mukherjee
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