Real-world data on hereditary amyloid transthyretin amyloidosis: Findings from a genetic testing program

被引：0
|
作者：
Khella, Sami [1 ]
Bumma, Naresh [2 ]
Gabriel, Aaron [3 ]
机构：
[1] Univ Penn, Philadelphia, PA 19104 USA
[2] Ohio State Univ, Columbus, OH 43210 USA
[3] Akcea Therapeut, Boston, MA USA
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2020年 / 25卷 / 04期
关键词：
Transthyretin; amyloid; amyloidosis; hATTR; genetic testing;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
384
引用
收藏
页码：568 / 568
页数：1
相关论文
共 50 条
  • [1] Genetic Testing for Hereditary Amyloid Transthyretin Amyloidosis: Insights From the Compass Program
    Bhatt, Kunal
    Delgado, Diego H.
    Khella, Sami
    Towne, Meghan C.
    Kaeser, Gwendolyn E.
    Sanjurjo, Victoria
    Shah, Keyur B.
    [J]. CIRCULATION, 2022, 146
  • [2] Patients With Hereditary Transthyretin Amyloidosis: Insights From A Genetic Testing Program
    Khella, S.
    Bumma, N.
    Gabriel, A.
    Denis, F.
    Stevenson, M.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 235 - 235
  • [3] HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND OTHER NEUROMUSCULAR DISEASES: INSIGHTS FROM A GENETIC TESTING PROGRAM
    Karam, Chafic
    Gabriel, Aaron
    Narayana, Arvind
    Olugemo, Kemi
    Khella, Sami
    [J]. MUSCLE & NERVE, 2020, 62 : S72 - S72
  • [4] Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
    Ando, Yukio
    Waddington-Cruz, Marcia
    Sekijima, Yoshiki
    Koike, Haruki
    Ueda, Mitsuharu
    Konishi, Hiroaki
    Ishii, Tomonori
    Coelho, Teresa
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [5] Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
    Yukio Ando
    Marcia Waddington-Cruz
    Yoshiki Sekijima
    Haruki Koike
    Mitsuharu Ueda
    Hiroaki Konishi
    Tomonori Ishii
    Teresa Coelho
    [J]. Orphanet Journal of Rare Diseases, 18
  • [6] Tafamidis real-world effectiveness in hereditary transthyretin amyloidosis with polyneuropathy: A meta-analytic proof of concept
    Serrano, Daniel
    Atzinger, Christopher
    Botteman, Marc
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 289 - 290
  • [7] Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy
    Gentile, Luca
    Mazzeo, Anna
    Briani, Chiara
    Casagrande, Silvia
    De Luca, Marcella
    Fabrizi, Gian Maria
    Gagliardi, Christian
    Gemelli, Chiara
    Forcina, Francesca
    Grandis, Marina
    Guglielmino, Valeria
    Iabichella, Giacomo
    Leonardi, Luca
    Lozza, Alessandro
    Manganelli, Fiore
    Mussinelli, Roberta
    My, Filomena
    Occhipinti, Giuseppe
    Fenu, Silvia
    Russo, Massimo
    Romano, Angela
    Salvalaggio, Alessandro
    Tagliapietra, Matteo
    Tozza, Stefano
    Palladini, Giovanni
    Obici, Laura
    Luigetti, Marco
    [J]. NEUROLOGICAL SCIENCES, 2024, 45 (09) : 4563 - 4571
  • [8] Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation
    Huang, Guannan
    Ueda, Mitsuharu
    Tasaki, Masayoshi
    Yamashita, Taro
    Misumi, Yohei
    Masuda, Teruaki
    Suenaga, Genki
    Inoue, Yasuteru
    Kinoshita, Yumiko
    Matsumoto, Sayaka
    Mizukami, Mayumi
    Tsuda, Yukimoto
    Nomura, Toshiya
    Obayashi, Konen
    Ando, Yukio
    [J]. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2017, 24 (01): : 24 - 29
  • [9] Real-world versus trial patients with transthyretin amyloid cardiomyopathy
    Canepa, Marco
    Tini, Giacomo
    Musumeci, Beatrice
    Cappelli, Francesco
    Milandri, Agnese
    Mussinelli, Roberta
    Autore, Camillo
    Perfetto, Federico
    Rapezzi, Claudio
    Perlini, Stefano
    [J]. EUROPEAN JOURNAL OF HEART FAILURE, 2019, 21 (11) : 1479 - 1481
  • [10] Clinical and Epidemiological Characteristics of Patients with TTR Mutations and Polyneuropathy Manifestations of Hereditary Transthyretin Amyloidosis: Insights from a Genetic Testing Program
    Khella, Sami
    Shah, Keyur
    Delgado, Diego
    Marti, Catherine
    Keller, Andrew
    Jefferies, John
    Dolinksy, Jill
    Gabriel, Aaron
    Narayana, Arvind
    Olugemo, Kemi
    [J]. NEUROLOGY, 2021, 96 (15)
12345