Detalhe da pesquisa
1.
Expansion of Anticomplement Therapy Indications from Rare Genetic Disorders to Common Kidney Diseases.
Annu Rev Med
; 75: 189-204, 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37669567
2.
Computational methods to assist in the discovery of pharmacological chaperones for rare diseases.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35595532
3.
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Mol Genet Metab
; 141(3): 108145, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38301529
4.
Uptake of orphan drugs in the WHO essential medicines lists.
Bull World Health Organ
; 102(1): 22-31, 2024 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38164340
5.
The Orphan Drug Act at 40: Legislative Triumph and the Challenges of Success.
Milbank Q
; 102(1): 83-96, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38087888
6.
Using automated text classification to explore uncertainty in NICE appraisals for drugs for rare diseases.
Int J Technol Assess Health Care
; 40(1): e5, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38178720
7.
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
Mol Genet Metab
; 138(4): 107558, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37004302
8.
Biosimilars in rare diseases: a focus on paroxysmal nocturnal hemoglobinuria.
Haematologica
; 108(5): 1232-1243, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36519328
9.
A retrospective study of 222 patients with newly diagnosed primary central nervous system lymphoma-Outcomes indicative for improved survival overtime.
Hematol Oncol
; 41(5): 838-847, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37403752
10.
Addressing a broken drug pipeline for preterm birth: why early preterm birth is an orphan disease.
Am J Obstet Gynecol
; 229(6): 647-655, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37516401
11.
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships.
J Inherit Metab Dis
; 46(5): 806-816, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36938792
12.
Approaches to the Assessment of Clinical Benefit of Treatments for Conditions That Have Heterogeneous Symptoms and Impacts: Potential Applications in Rare Disease.
Value Health
; 26(4): 547-553, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36455827
13.
Prevalence and nature of manufacturer-sponsored patient support programs for prescription drugs in Canada: a cross-sectional study.
CMAJ
; 195(46): E1565-E1576, 2023 11 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38011930
14.
An unusual presentation of a rare disease: acute upper limb ischemia as the presenting symptom of Whipple's Endocarditis, a case report.
BMC Infect Dis
; 23(1): 180, 2023 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36973675
15.
Analysis of orphan designation status for FDA approved drugs, and case studies in oncology, neuroscience and metabolic diseases.
Bioorg Med Chem
; 80: 117170, 2023 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36696875
16.
Dynamic use of historical controls in clinical trials for rare disease research: A re-evaluation of the MILES trial.
Clin Trials
; 20(3): 223-234, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36927115
17.
Case study using RWD in the context of a pivotal trial for regulatory approval in a rare disease.
J Biopharm Stat
; 33(6): 812-819, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36710386
18.
Juvenile localized scleroderma: A single-centre experience from India.
J Eur Acad Dermatol Venereol
; 37(3): 598-604, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36413107
19.
Novel approach to decision making for orphan drugs.
Int J Technol Assess Health Care
; 39(1): e10, 2023 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36748356
20.
The future of rare disease drug development: the rare disease cures accelerator data analytics platform (RDCA-DAP).
J Pharmacokinet Pharmacodyn
; 50(6): 507-519, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37131052