Zobrazeno 1 - 10
of 61
pro vyhledávání: '"ultra-rare disease"'
Publikováno v:
Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)
Nina-Maria Wilpert,1,2 Davide Tonduti,3 Ylenia Vaia,3 Heiko Krude,4 Catherine Sarret,5 Markus Schuelke1,2,6 1Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute
Externí odkaz:
https://doaj.org/article/6649c0f03e284adbb621aac95998025c
Autor:
Akihiko Kawakami, Ken Masamune
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Extremely high prices facilitate drug development for ultra-rare diseases (ultra-orphan drugs). However, various problems arise in terms of healthcare financing and fairness, and the status of ultra-orphan drug pricing remains amb
Externí odkaz:
https://doaj.org/article/cf0ed0fc7b264bf689e9dee9a1350edf
Autor:
Aleksandar Videnovic, Helle C. V. Pfeiffer, Anna Tylki-Szymańska, Elizabeth Berry-Kravis, Fatih Ezgü, Jitendra Ganju, Agnieszka Jurecka, Anthony E. Lang
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Substantial challenges in study design and methodology exist during clinical trial development to examine treatment response in patients with a rare disease, especially those with predominant central nervous system involvement and heterogeneity in cl
Externí odkaz:
https://doaj.org/article/ebbf74300d3d4350b2850d489a3bf6bc
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Autor:
Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. Methods Clinical, radiological, pathological, and genetic findings were review
Externí odkaz:
https://doaj.org/article/be9c47dae75f4ea5ad61c05481b6733b
Autor:
Denis Horgan, Barbara Moss, Stefania Boccia, Maurizio Genuardi, Maciej Gajewski, Gabriele Capurso, Pierre Fenaux, Beatrice Gulbis, Mariangela Pellegrini, Maria del Mar Mañú Pereira, Victoria Gutiérrez Valle, Iñaki Gutiérrez Ibarluzea, Alastair Kent, Ivana Cattaneo, Beata Jagielska, Ivica Belina, Birute Tumiene, Adrian Ward, Marisa Papaluca
Publikováno v:
Biomedicine Hub, Vol 5, Iss 2, Pp 143-153 (2020)
Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their str
Externí odkaz:
https://doaj.org/article/80e8dc34f723470d86371be1108b424e
Autor:
María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
Abstract Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) se
Externí odkaz:
https://doaj.org/article/31f4bc61a7fe40188129d799120c804d
Akademický článek
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Autor:
Yoshitsugu Aoki, Matthew J.A. Wood
Publikováno v:
Journal of Neuromuscular Diseases
Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified. Despite their individual rarity, 1 in 10 individuals worldwide is affected by a rare cond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12cc7257f1cd156ec4b461a8ed7e9a09
https://doi.org/10.3233/jnd-200560
https://doi.org/10.3233/jnd-200560
Autor:
Simon C. Johnson, Qitao Ran, Kristen Wigby, Dorian M. Cheff, Sanath Kumar Ramesh, Elias S.J. Arnér, Reena V. Kartha, Edward E. Schmidt, Brent R. Stockwell, Matthew D. Hall, Plavi Mittal, Alysson R. Muotri
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet journal of rare diseases, vol 16, iss 1
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 16, iss 1
Orphanet Journal of Rare Diseases
Background Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have linked this disease to mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444f8b2e97dd1570f9c9953db20119d1
https://doaj.org/article/b03c183bb33b4ee8b5828e0234f4c132
https://doaj.org/article/b03c183bb33b4ee8b5828e0234f4c132
