Zobrazeno 1 - 10
of 1 681
pro vyhledávání: '"Amyloid polyneuropathy"'
Autor:
Giacomo Urbinati, Ilaria Cani, Marco Currò Dossi, Simone Longhi, Samuela Carigi, Christian Gagliardi, Elena Biagini, Nazzareno Galiè, Pietro Cortelli, Pietro Guaraldi
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
ObjectivesEvidence on the activity of patisiran therapy in specific subgroups of patients with hereditary transthyretin amyloidosis variant (ATTRv) is still scarce. This prospective real-world study was designed to provide the first in-depth clinical
Externí odkaz:
https://doaj.org/article/6d48eaa8280b4f93b36312858de5a918
Publikováno v:
Biomolecules, Vol 14, Iss 6, p 652 (2024)
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy (FAP)) is an endemic amyloidosis involving the harmful aggregation of proteins, most commonly transthyretin (TTR) but sometimes also a
Externí odkaz:
https://doaj.org/article/7e49c8d2c4df40af81b96abbb7d3329c
Autor:
L. Silva-Hernández, A. Horga Hernández, A. Valls Carbó, A. Guerrero Sola, M.T. Montalvo-Moraleda, L. Galán Dávila
Publikováno v:
Neurología, Vol 38, Iss 2, Pp 87-92 (2023)
Resumen: Introducción: La polineuropatía relacionada con el depósito de amiloide por transtiretina (hATTR, por sus siglas en inglés) es una enfermedad poco común, multisistémica, de inicio en la edad adulta con un pronóstico ominoso sin tratam
Externí odkaz:
https://doaj.org/article/910bf51e4fa04460b1626efb2d4afed2
Autor:
Falcão de Campos C, Conceição I
Publikováno v:
Drug, Healthcare and Patient Safety, Vol Volume 15, Pp 51-62 (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
Externí odkaz:
https://doaj.org/article/94dae82a20004df98f10a27aa3c55b0d
Publikováno v:
International Medical Case Reports Journal, Vol Volume 15, Pp 299-306 (2022)
Shun Wang,1,* Jingping Sun,2,* Qun Lu,1 Hao Li,3 Yun Zhang4 1Department of Cardiology, The First Affiliated Hospital of Xi’an Jiaotong University, Xian, Shaanxi, People’s Republic of China; 2Department of Cardiology, The Cleveland Clinic
Externí odkaz:
https://doaj.org/article/85772c9d7a63404f980efc6d77504710
Autor:
Yan Xian-rang, Hong Ming-fan, Zhou Zhi-hua, Liu Ai-qun, Peng Zhong-xing, Wu Wei-feng, Jing Cheng, Lin Jia-xiu, Long Ying, Yu Qing-yun
Publikováno v:
Translational Neuroscience, Vol 13, Iss 1, Pp 116-119 (2022)
We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with t
Externí odkaz:
https://doaj.org/article/e20b8e3a35f8462fa5d57ce40015fc99
Autor:
Domenico Plantone, Guido Primiano, Delia Righi, Angela Romano, Marco Luigetti, Nicola De Stefano
Publikováno v:
Cells, Vol 12, Iss 19, p 2383 (2023)
Hereditary transthyretin (ATTRv) amyloidosis with polyneuropathy, also known as familial amyloid polyneuropathy (FAP), represents a progressive, heterogeneous, severe, and multisystemic disease caused by pathogenic variants in the TTR gene. This auto
Externí odkaz:
https://doaj.org/article/f02e6e6fecf546ca98cf5008c390bf87
Publikováno v:
International Journal of Retina and Vitreous, Vol 8, Iss 1, Pp 1-5 (2022)
Abstract Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the sp
Externí odkaz:
https://doaj.org/article/a5b7f774ca3d446ea8cc7ca43583ce5d
Publikováno v:
Heliyon, Vol 8, Iss 9, Pp e10730- (2022)
Familial amyloid polyneuropathy, an autosomal-dominant disease due to mutations in the transthyretin gene, often affects the heart and liver, and is treated best with a combined heart–liver transplantation (CHLT). Although it remains an uncommonly
Externí odkaz:
https://doaj.org/article/3babc98a299d4a6cb579678ca2f8f12d
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