Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Rare disease (RD)"'
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
This commentary provides a comprehensive overview of the challenges and opportunities in the field of drug development for rare diseases and especially of gene therapy products for ultra-rare diseases. It discusses the limited market size, reimbursem
Externí odkaz:
https://doaj.org/article/87f06f3557124885bc4677da631c10ee
Publikováno v:
Frontiers in Surgery, Vol 11 (2024)
IntroductionWe present the case of a patient with recurrent bilateral hemothorax. After misdiagnosis despite several histological samples, a pleural manifestation of epithelioid angiosarcoma was diagnosed by further immunohistological staining. Based
Externí odkaz:
https://doaj.org/article/17d1aec57e124ef3926365ad3b4d7610
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Shabir Hassan, Museer A. Lone
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/9ac3fedca04941d1a4eec802f12ca1c9
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/0d562b87e8014bd69ae89445b5c90882
Autor:
Simon Lin, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Elmar Aigner, Alistair G. Martin
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the res
Externí odkaz:
https://doaj.org/article/0ad03e8ef65d412da58d8010abd055a1
Autor:
Zainab Ahmed Alani
Publikováno v:
Frontiers in Psychology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/34faf58bc7be4674ba0dc29021049cbf
Publikováno v:
Frontiers in Artificial Intelligence, Vol 5 (2022)
Externí odkaz:
https://doaj.org/article/f3696c4a19554bd89f913f89012ce443
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/4c964724cb254384bdcea7229b0ed996
Autor:
Qian Zhu, Chunxu Qu, Ruizheng Liu, Gunjan Vatas, Andrew Clough, Ðắc-Trung Nguyễn, Eric Sid, Ewy Mathé, Yanji Xu
Publikováno v:
Frontiers in Artificial Intelligence, Vol 5 (2022)
Rare diseases (RDs) are naturally associated with a low prevalence rate, which raises a big challenge due to there being less data available for supporting preclinical and clinical studies. There has been a vast improvement in our understanding of RD
Externí odkaz:
https://doaj.org/article/8284dbf2556648699100eb6a3653f156