相似文献
1
Why rare disease needs precision medicine-and precision medicine needs rare disease.
Cell Rep Med. 2022 Feb 15;3(2):100530. doi: 10.1016/j.xcrm.2022.100530.
2
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4.
3
Taking Control of Castleman Disease: Leveraging Precision Medicine Technologies to Accelerate Rare Disease Research.
Yale J Biol Med. 2015 Nov 24;88(4):383-8. eCollection 2015 Dec.
4
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.
Int J Mol Sci. 2023 May 22;24(10):9064. doi: 10.3390/ijms24109064.
5
Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.
EMBO Mol Med. 2018 Jan;10(1):1-3. doi: 10.15252/emmm.201708365.
6
Computational drug repositioning for rare diseases in the era of precision medicine.
Drug Discov Today. 2018 Feb;23(2):382-394. doi: 10.1016/j.drudis.2017.10.009. Epub 2017 Oct 18.
7
Precision medicine and rare diseases in pediatric urology.
J Pediatr Urol. 2023 Jun;19(3):335-338. doi: 10.1016/j.jpurol.2023.03.010. Epub 2023 Mar 11.
8
eRAM: encyclopedia of rare disease annotations for precision medicine.
Nucleic Acids Res. 2018 Jan 4;46(D1):D937-D943. doi: 10.1093/nar/gkx1062.
9
Rare diseases reconsidered.
CMAJ. 2013 May 14;185(8):E315-6. doi: 10.1503/cmaj.109-4456. Epub 2013 Apr 2.
10
Family first.
Nature. 2013 Jun 27;498(7455):408. doi: 10.1038/498408a.
引用本文的文献
1
Consumer Data is Key to Artificial Intelligence Value: Welcome to the Health Care Future.
J Particip Med. 2025 Aug 1;17:e68261. doi: 10.2196/68261.
2
Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.
Front Public Health. 2025 Feb 3;13:1520467. doi: 10.3389/fpubh.2025.1520467. eCollection 2025.
3
Editorial: Inborn errors of carbohydrate metabolism.
Front Genet. 2024 Jun 20;15:1430414. doi: 10.3389/fgene.2024.1430414. eCollection 2024.
4
Automatic Classification and Visualization of Text Data on Rare Diseases.
J Pers Med. 2024 May 20;14(5):545. doi: 10.3390/jpm14050545.
5
BBLN triggers CAMK2D pathology in mice under cardiac pressure overload and potentially in unrepaired hearts with tetralogy of Fallot.
Nat Cardiovasc Res. 2023;2(11):1044-1059. doi: 10.1038/s44161-023-00351-6. Epub 2023 Oct 26.
6
Innovative research methodologies in the EU regulatory framework: an analysis of EMA qualification procedures from a pediatric perspective.
Front Med (Lausanne). 2024 Mar 28;11:1369547. doi: 10.3389/fmed.2024.1369547. eCollection 2024.
7
User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG).
Stud Health Technol Inform. 2024 Jan 25;310:94-98. doi: 10.3233/SHTI230934.
8
The Buzz Surrounding Precision Medicine: The Imperative of Incorporating It into Evidence-Based Medical Practice.
J Pers Med. 2023 Dec 29;14(1):53. doi: 10.3390/jpm14010053.
9
AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.
Sci Adv. 2023 Sep;9(35):eadg6375. doi: 10.1126/sciadv.adg6375. Epub 2023 Sep 1.
10
The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
J Registry Manag. 2023 Spring;50(1):4-10.
本文引用的文献
1
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26.
2
The diagnostic odyssey: our family's story.
Am J Hum Genet. 2021 Feb 4;108(2):217-218. doi: 10.1016/j.ajhg.2021.01.003.
3
How many rare diseases are there?
Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y.
4
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.
5
Toward A Universal Biomedical Data Translator.
Clin Transl Sci. 2019 Mar;12(2):86-90. doi: 10.1111/cts.12591. Epub 2018 Nov 9.
6
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Hum Mol Genet. 2018 Mar 15;27(6):1055-1066. doi: 10.1093/hmg/ddy026.
7
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Bioorg Med Chem Lett. 2017 Jul 1;27(13):2962-2966. doi: 10.1016/j.bmcl.2017.05.010. Epub 2017 May 5.
8
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.
9
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Genet Med. 2014 Oct;16(10):736-7. doi: 10.1038/gim.2014.23. Epub 2014 Mar 20.
10
The knockout mouse project.
Nat Genet. 2004 Sep;36(9):921-4. doi: 10.1038/ng0904-921.
Zotero 插件