Ruiz A, Large K, Moon S, Vieira M
F1000Res. 2024; 12:211.
PMID: 38778810
PMC: 11109548.
DOI: 10.12688/f1000research.130809.2.
Sampson K, Sorenson C, Adamala K
Synth Biol (Oxf). 2024; 9(1):ysae004.
PMID: 38327596
PMC: 10849770.
DOI: 10.1093/synbio/ysae004.
Alewaidat H, Bataineh Z, Bani-Ahmad M, Alali M, Almakhadmeh A
F1000Res. 2023; 12:741.
PMID: 37822316
PMC: 10562777.
DOI: 10.12688/f1000research.130388.1.
Li X, Lu Z, Zhang J, Zhang X, Zhang S, Zhou J
Orphanet J Rare Dis. 2020; 15(1):282.
PMID: 33046132
PMC: 7552513.
DOI: 10.1186/s13023-020-01568-5.
Delate T, Hansen M, Gutierrez A, Le K
J Manag Care Spec Pharm. 2020; 26(7):832-838.
PMID: 32584674
PMC: 10391100.
DOI: 10.18553/jmcp.2020.26.7.832.
Performance of matching methods in studies of rare diseases: a simulation study.
Cenzer I, Boscardin W, Berger K
Intractable Rare Dis Res. 2020; 9(2):79-88.
PMID: 32494554
PMC: 7263993.
DOI: 10.5582/irdr.2020.01016.
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A, Spolia A, Mahajan A, Verma V, Sharma A, Kumar P
Front Genet. 2020; 11:415.
PMID: 32425985
PMC: 7203485.
DOI: 10.3389/fgene.2020.00415.
Rare Genetic Diseases: Nature's Experiments on Human Development.
Lee C, Singleton K, Wallin M, Faundez V
iScience. 2020; 23(5):101123.
PMID: 32422592
PMC: 7229282.
DOI: 10.1016/j.isci.2020.101123.
The Role of the Food and Drug Administration in Drug Development: On the Subject of Proarrhythmia Risk.
Thind M, Kowey P
J Innov Card Rhythm Manag. 2020; 11(1):3958-3967.
PMID: 32368365
PMC: 7192125.
DOI: 10.19102/icrm.2020.110103.
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Tuchmann-Durand C, Thevenet E, Moulin F, Lesage F, Bouchereau J, Oualha M
JIMD Rep. 2020; 51(1):25-29.
PMID: 32071836
PMC: 7012734.
DOI: 10.1002/jmd2.12090.
Strategies for eliciting and synthesizing evidence for guidelines in rare diseases.
Pai M, Yeung C, Akl E, Darzi A, Hillis C, Legault K
BMC Med Res Methodol. 2019; 19(1):67.
PMID: 30922227
PMC: 6437842.
DOI: 10.1186/s12874-019-0713-0.
Systematic Review and Meta-Analysis of the Magnitude of Structural, Clinical, and Physician and Patient Barriers to Cancer Clinical Trial Participation.
Unger J, Vaidya R, Hershman D, Minasian L, Fleury M
J Natl Cancer Inst. 2019; 111(3):245-255.
PMID: 30856272
PMC: 6410951.
DOI: 10.1093/jnci/djy221.
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Stunnenberg B, Raaphorst J, Groenewoud H, Statland J, Griggs R, Woertman W
JAMA. 2018; 320(22):2344-2353.
PMID: 30535218
PMC: 6583079.
DOI: 10.1001/jama.2018.18020.
Investigating the landscape of US orphan product approvals.
Miller K, Lanthier M
Orphanet J Rare Dis. 2018; 13(1):183.
PMID: 30348193
PMC: 6198498.
DOI: 10.1186/s13023-018-0930-3.
Harnessing the Digital Exhaust: Incorporating wellness into the pharma model.
Wright J, Jones G
Digit Biomark. 2018; 2(1):31-46.
PMID: 30272048
PMC: 6157915.
DOI: 10.1159/000488132.
Prediction of Cardiovascular Risk to Guide Primary Prevention.
Curfman G
JAMA Intern Med. 2018; 178(9):1240-1241.
PMID: 30039158
PMC: 6142962.
DOI: 10.1001/jamainternmed.2018.3131.
Drug discovery and development for rare genetic disorders.
Sun W, Zheng W, Simeonov A
Am J Med Genet A. 2017; 173(9):2307-2322.
PMID: 28731526
PMC: 5662129.
DOI: 10.1002/ajmg.a.38326.
Do investors value the FDA orphan drug designation?.
Miller K
Orphanet J Rare Dis. 2017; 12(1):114.
PMID: 28629392
PMC: 5477091.
DOI: 10.1186/s13023-017-0665-6.
Profitability and Market Value of Orphan Drug Companies: A Retrospective, Propensity-Matched Case-Control Study.
Hughes D, Poletti-Hughes J
PLoS One. 2016; 11(10):e0164681.
PMID: 27768685
PMC: 5074462.
DOI: 10.1371/journal.pone.0164681.
[Orphan drugs : New opportunities for the treatment of rare diseases].
Beck M
Internist (Berl). 2016; 57(11):1132-1138.
PMID: 27527064
DOI: 10.1007/s00108-016-0114-y.