المؤلفون: Pant, Devesh Chandra

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Pujol, Aurora, Fourcade, Stéphane

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Ultra-rare disease, Dihydroceramide desaturase, Oligodendrocytes, Fingolimod, Zebrafish, Secuenciación completa de exoma, Leucodistrofia, Esfingolípidos, Especies reactivas de oxígeno, Terapéutica

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/664936

المؤلفون: Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M

المصدر: Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)

مصطلحات موضوعية: mct8 deficiency, slc16a2, ultra-rare disease, movement disorders, triac, stakeholder engagement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.dovepress.com/establishing-patient-centered-outcomes-for-mct8-deficiency-stakeholder-peer-reviewed-fulltext-article-NDT; https://doaj.org/toc/1178-2021

URL الوصول: https://doaj.org/article/6649c0f03e284adbb621aac95998025c

المؤلفون: Cheff, Dorian M, Muotri, Alysson R, Stockwell, Brent R, Schmidt, Edward E, Ran, Qitao, Kartha, Reena V, Johnson, Simon C, Mittal, Plavi, Arnér, Elias SJ, Wigby, Kristen M, Hall, Matthew D, Ramesh, Sanath Kumar

المصدر: Orphanet Journal of Rare Diseases. 16(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Orphan Drug, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Osteochondrodysplasias, Sedaghatian-type spondylometaphyseal dysplasia, SSMD, Glutathione peroxidase 4, GPX4, Rare genetic disorder, Therapy development, Roadmap, Ultra-rare disease, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4pb9v6gx

المؤلفون: Akihiko Kawakami, Ken Masamune

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Ultra-orphan drugs, Ultra-rare disease, Pricing, Price regulation, Japan, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/cf0ed0fc7b264bf689e9dee9a1350edf

المؤلفون: Aleksandar Videnovic, Helle C. V. Pfeiffer, Anna Tylki-Szymańska, Elizabeth Berry-Kravis, Fatih Ezgü, Jitendra Ganju, Agnieszka Jurecka, Anthony E. Lang

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: ultra-rare disease, orphan disease, clinical trial design, inborn errors of metabolism, movement disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1098454/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ebbf74300d3d4350b2850d489a3bf6bc

المؤلفون: Kawakami, Akihiko^{Aff1, Aff2}, Masamune, Ken^{Aff1, IDs1302302202526z_cor2}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: 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

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Ultra-rare disease, Genetic renal disease, Whole-exome sequencing, Genetic diagnosis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/be9c47dae75f4ea5ad61c05481b6733b

المؤلفون: Jung, Jiwon, Lee, Joo Hoon, Park, Young Seo, Seo, Go Hun, Keum, Changwon, Kang, Hee Gyung, Lee, Hajeong, Lee, Sang Koo, Lee, Sang Taek, Cho, Heeyeon, Lee, Beom Hee^{Aff1, Aff8}

المصدر: BMC Medical Genomics. 14(1)

المؤلفون: 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

المصدر: Biomedicine Hub, Vol 5, Iss 2, Pp 143-153 (2020)

مصطلحات موضوعية: rare disease, regulatory, member states, orphan regulation, european commission, patients, personalised healthcare, incentives, challenges, access, biosimilars, unmet need, reimbursement, diagnostics, biomarkers, inequality, treatment, data, ultra-rare disease, empowerment, patient, citizens, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/509272; https://doaj.org/toc/2296-6870

URL الوصول: https://doaj.org/article/80e8dc34f723470d86371be1108b424e

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