Results 81 to 90 of about 141,957 (168)

Hereditary Transthyretin Amyloidosis in Eight Chinese Families

, 2015
Background: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported.
Wei Zhang, Yun Yuan, Jing Liu, He Lyu, Zhao-Xia Wang, Ling-Chao Meng   +5 more
core   +1 more source

Erythropoietin in Familial Amyloidosis ATTR V30M

, 2013
Familial amyloidosis ATTR V30M is an hereditary disorder, the most frequent type of transthyretin related amyloidosis. The main manifestation of the disease is a sensory-motor and autonomic polyneuropathy.
Costa, P.P., Beirão, I.
core   +1 more source

Real-world treatment management in hereditary transthyretin amyloidosis – an experience report and proposal for therapy switch decision criteria

Neurological Research and Practice
Background Hereditary transthyretin amyloidosis is a rapidly progressive and lethal disease. Thanks to the increasing number of disease-modifying treatments, prognosis has improved significantly.
Duc Chu Dieu, Helena F. Pernice, Harisa Muratovic, Paul J. Wetzel, Gina Barzen, Nicolas W. Wieder, Stefanie M. Werhahn, Bettina Heidecker, Sebastian Spethmann, Katrin Hahn   +9 more
doaj   +1 more source

Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum

Frontiers in Physiology
Hereditary transthyretin amyloidosis (ATTRv) results from genetic mutations that destabilize transthyretin (TTR), leading to the formation of extracellular aggregates and amyloid fibrils.
Jia Meng, Shan-jun Cai, Shan-jun Cai, Shan-jun Cai, Shan-jun Cai   +4 more
doaj   +1 more source

Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy

Drug, Healthcare and Patient Safety, 2023
Catarina Falcão de Campos,1,2 Isabel Conceição1,2 1Department of Neurosciences and Mental Health, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal; 2Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz ...
Falcão de Campos C, Conceição I
doaj  

Eprodisate for the treatment of renal disease in AA amyloidosis [PDF]

, 2007
Background: Amyloid A (AA) amyloidosis is a complication of chronic inflammatory conditions that develops when proteolytic fragments of serum amyloid A protein (SAA) are deposited in tissues as amyloid fibrils.
Dember, L.M., Hazenberg, B.P.C., Garceau, D., Puéchal, X., Livneh, A., Lesnyak, O., Skinner, Martha, Lesnyak, Olga, Livneh, Avi, Butrimiene, I., Merlini, G., Hauck, Wendy, Obici, L., Dember, Laura M., Gorevic, Peter D., Skinner, M., Butrimiene, Irena, Hawkins, Philip N., Balshaw, Robert, Hazenberg, Bouke P. C.; id_orcid, Lachmann, Helen J., Obici, Laura, Gorevic, P.D., Puechal, Xavier, Hazenberg, Bouke P. C., Hawkins, P.N., Garceau, Denis, Balshaw, R., Lachmann, H.J., Merlini, Giampaolo, Hauck, W.   +30 more
core  

Rapid and sensitive detection of transthyretin variants associated with hereditary transthyretin amyloidosis using an immunoprecipitation – matrix assisted laser desorption/ionization mass spectrometry assay

, 2023
Transthyretin amyloidosis is an increasingly recognised cause of cardiac amyloidosis and heart failure with preserved ejection fraction. Best clinical practice screens patients presenting with transthyretin amyloidosis to exclude transthyretin ...
Taylor, Mark Simon
core  

Pathophysiology and Comprehensive Pharmacological Management of ATTR Cardiac Amyloidosis: Knowledge Gaps, Ongoing Clinical Trials, and Future Research Directions

Pharmaceuticals
The purpose of this review article is to discuss the current treatment modalities and ongoing clinical trials regarding cardiac amyloidosis (CA), specifically transthyretin cardiac amyloidosis (ATTR-CA). Amyloidosis refers to the extracellular deposition
Sareen Bains, Harry Atwal, Ashbir Sidhu, Harpreet Singh, Gurpreet Sodhi   +4 more
doaj   +1 more source

What's new in the treatment of amyloidosis? Part 2: Cardiomyopathy due to transthyretin amyloidosis

Revista del Hospital Italiano de Buenos Aires
Transthyretin deposition amyloidosis is a rare disease caused by the deposition of fibrils of this protein in various tissues, although the most common manifestations are cardiac and neurological.
Gisela Bendelman, Marcelina Carretero, Diego Pérez de Arenaza, Eugenia Villanueva, Erika B. Brulc, Elsa M. Nucifora, María A. Marco, María S. Sáez, Patricia Sorroche, María A. Aguirre, María L. Posadas Martínez   +10 more
doaj   +1 more source

Intraocular amyloidosis presenting with secondary glaucoma: a clinical-pathologic report and literature review

American Journal of Ophthalmology Case Reports
Purpose: We describe a case of intraocular amyloidosis presenting as secondary glaucoma, highlighting the clinical presentation and pathologic correlates.
Joseph B. Lin, James C. Liu, Rajendra S. Apte, George J. Harocopos   +3 more
doaj   +1 more source