Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Montserrat Vera Llonch"'
Autor:
Kate Williams, Georgina Tickler, Pedro Valdivielso, Jordi Alonso, Montserrat Vera-Llonch, Laia Cubells, Sarah Acaster
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP). Volanesorsen, along
Externí odkaz:
https://doaj.org/article/04d9ca235bee4d0aa265e5dc7d632476
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-14 (2023)
Abstract Background Patients with hereditary transthyretin amyloidosis (ATTRv) frequently experience symptoms of polyneuropathy (PN) that worsen over time and impair daily functioning. Previous analyses supported efficacy of inotersen, an antisense o
Externí odkaz:
https://doaj.org/article/122912af84f74945b784e7335dee08ca
Autor:
David Davidson, Christina Slota, Montserrat Vera-Llonch, T. Michelle Brown, Andrew Hsieh, Sheri Fehnel
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-8 (2021)
Abstract Background Familial chylomicronemia syndrome (FCS), a rare genetic disorder characterized by high levels of circulating triglycerides, negatively impacts multiple organs, including the liver and pancreas. Objective The objective of this stud
Externí odkaz:
https://doaj.org/article/5c4e683ce77441728d099bd6505b9c13
Autor:
Xiaochen Lin, Aaron Yarlas, Montserrat Vera-Llonch, Nishtha Baranwal, Josh Biber, Duncan Brown, Braden Vogt, Chafic Karam
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-13 (2021)
Abstract Background We aimed to compare neuropathic progression rate between hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and other peripheral neuropathies, including diabetic peripheral neuropathy (DPN) and Charcot-Marie-Tooth
Externí odkaz:
https://doaj.org/article/614b7d3469c148ddbf872a0e61198f2f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading up to diagnosis may
Externí odkaz:
https://doaj.org/article/26416dab31d04b7eb5fd24a4e7ed5037
Autor:
Sheila R. Reddy, Eunice Chang, Marian H. Tarbox, Michael S. Broder, Ryan S. Tieu, Spencer Guthrie, Montserrat Vera-Llonch, Michael R. Pollock
Publikováno v:
Neurology and Therapy, Vol 9, Iss 2, Pp 473-482 (2020)
Abstract Introduction Little is known about the burden of hereditary transthyretin (ATTRv) amyloidosis, a genetic, progressive, and fatal disease caused by extracellular deposition of transthyretin amyloid fibrils. The study’s aim was to estimate c
Externí odkaz:
https://doaj.org/article/0bc7bd40c9b34317963e69412f7b4102
Autor:
Chafic Karam, Duncan Brown, Min Yang, Nicolae Done, Jing Jing Zhu, Alexandra Greatsinger, Ana Bozas, Montserrat Vera‐Llonch, James Signorovitch
Publikováno v:
Muscle & Nerve. 66:438-446
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eff456bba2538dbfd726f44537a1d386
https://doi.org/10.1002/mus.27675
https://doi.org/10.1002/mus.27675
Autor:
Chafic Karam, Duncan Brown, Min Yang, Nicolae Done, Ibou Dieye, Ana Bozas, Montserrat Vera Llonch, James Signorovitch
Publikováno v:
Muscle & Nerve. 66:319-328
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a genetic condition associated with significant morbidity and mortality. In this study we aimed to identify patient subgroups exhibiting the greatest health-related quality of lif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdee686e5865f521c3ed833b1f42ab46
https://doi.org/10.1002/mus.27668
https://doi.org/10.1002/mus.27668
Autor:
Karen Kaiser, Rina S. Fox, Chelsea Perschon, Montserrat Vera-Llonch, Jordi Alonso, Laia Cubells, David Cella
Publikováno v:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation.
Purpose Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by high triglyceride levels, significant disease burden, and negative impacts on health-related quality of life. This project aimed to create a PROMIS-based pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b404106a082141bf88fdb658aae625c2
https://pubmed.ncbi.nlm.nih.gov/36310187
https://pubmed.ncbi.nlm.nih.gov/36310187
Autor:
Duncan Brown, Montserrat Vera-Llonch, Márcia Waddington-Cruz, Andrew Lovley, Laura Obici, Aaron Yarlas, Chafic Karam, Sami Khella, Kristen L. McCausland, Isabel Conceição
Publikováno v:
Neurology and Therapy
Introduction Patients with hereditary transthyretin amyloidosis associated with polyneuropathy (ATTRv-PN) experience deterioration in health-related quality of life (HRQOL) as the disease progresses. Findings from the randomized placebo-controlled ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::687cdd2d6500bebd96d78c8492196b6c
https://doi.org/10.1007/s40120-021-00268-x
https://doi.org/10.1007/s40120-021-00268-x