Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Neuropatias Amiloides Familiares"'
1
Akademický článek
Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro
Autor: Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz
Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 04, Pp 001-007 (2024)
Background Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and deposit in b
Externí odkaz: https://doaj.org/article/53989f511b9f4e7ca15a62d8b951e699
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3
Akademický článek
Hipertrofia Ventricular Esquerda: Um Fenótipo, Duas Hipóteses, Três Lições
Autor: Patrícia Rodrigues, Ana Rita Soares, Ricardo Taipa, Sofia Ferreira, Hipólito Reis
Publikováno v: Arquivos Brasileiros de Cardiologia, Vol 117, Iss 5, Pp 1056-1059 (2021)
Externí odkaz: https://doaj.org/article/792fc68c250b4ac5817ec022ef56f0cc
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4
Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
Autor: Vanessa Cristina Cunha Sequeira, Maria Alice Penetra, Lisa Duarte, Fernanda Reis de Azevedo, Raphael Santa Rosa Sayegh, Roberto Coury Pedrosa, Márcia Waddington Cruz
Publikováno v: Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 08 NOV 2021
Arquivos de Neuro-Psiquiatria (2021)
Arquivos de Neuro-Psiquiatria v.80 n.3 2022
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 80, Issue: 3, Pages: 262-269, Published: 05 NOV 2021
Arquivos de Neuro-Psiquiatria n.ahead 2021
Arquivos de Neuro-Psiquiatria
Academia Brasileira de Neurologia (ABNEURO)
Background: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene. Baseline characteristics of patients, especially anthrop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02bb0ec16c72aefb52a0b67a0fcef3d
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021005021201&lng=en&tlng=en
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6
Espectro das alterações neurológicas e oftalmológicas em pacientes portadores de mutações P.ILE127val no gene da transtirretina
Autor: Holanda Filha, Joana Gurgel
Publikováno v: Repositório Institucional da Universidade Federal do Ceará (UFC)
Universidade Federal do Ceará (UFC)
instacron:UFC
Introduction: Familial transthyretin (TTR) amyloidosis is the most common form of hereditary systemic amyloidosis worldwide. In most patients, the peripheral nervous system is the main target, resulting in familial transthyretin amyloidotic polyneuro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::4e5c357fb1f5bf6154464d005a1a7d2a
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7
Syncope as a Phenotypic Expression of Hereditary Transthyretin Amyloidosis Val142Ile (Val122Ile)
Autor: Nunes, Nágela S. V., Carvalho, João Paulo Moreira, Costa, Fernanda Salomão, Nacif, Marcelo Souto, Dominato, Joelma, Mesquita, Claudio Tinoco, Mesquita, Evandro Tinoco
Publikováno v: Arquivos Brasileiros de Cardiologia, Volume: 114, Issue: 4 Supplement 1, Pages: 1-3, Published: 14 NOV 2019
Arquivos Brasileiros de Cardiologia v.114 n.4 suppl.1 2020
Arquivos Brasileiros de Cardiologia
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
Arquivos Brasileiros de Cardiologia, Issue: ahead, Published: 14 NOV 2019
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0f2a12ba0262f382df0539f1c02243a2
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2020000500001&lng=en&tlng=en
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8
Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy
Autor: Pinto, Marcus Vinicius, Barreira, Amilton Antunes, Bulle, Acary Souza, Freitas, Marcos Raimundo Gomes de, França Jr, Marcondes Cavalcante, Gondim, Francisco de Assis Aquino, Marrone, Carlo Domenico, Marques Jr, Wilson, Nascimento, Osvaldo J. M., Rotta, Francisco Tellechea, Pupe, Camila, Waddington-Cruz, Márcia
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 76, Issue: 9, Pages: 609-621, Published: SEP 2018
Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::1cde536bbdee89deee0bbf9f9bad66c0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000900609&lng=en&tlng=en
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9
Familial amyloidotic polineuropathy and systemic lupus
Autor: Ana Carina Ferreira, Fernanda Carvalho, Fernando Nolasco
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no spe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5bf7bf244f1ab58e2f3296d311b50f
https://doi.org/10.1177/0961203312458470
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