Results 1 to 10 of about 68,732 (285)
PLoS ONE, 2022 The amyloid cascade hypothesis proposes that excessive accumulation of amyloid beta-peptides is the initiating event in Alzheimer's disease. These neurotoxic peptides are generated from the amyloid precursor protein via sequential cleavage by β- and γ ...
Edward T Parkin +3 more
doaj +5 more sources
Actas Dermo-Sifiliográficas, 2022 Resumen: Introducción: El abordaje terapéutico de las manifestaciones cutáneas de las enfermedades raras es complejo. El objetivo principal de este trabajo consistió en determinar el impacto de la formulación magistral de dispensación hospitalaria en la
M. Oro-Ayude +4 more
doaj +1 more source
Experiencia clínica con medicamentos huérfanos para enfermedades raras metabólicas
Anales de Pediatría, 2022 Resumen: Introducción: Los errores congénitos del metabolismo son un grupo muy heterogéneo de enfermedades raras. La mayoría se pueden tratar con dieta y sustitución enzimática.Existen pocos pacientes y pocos estudios publicados en estas enfermedades ...
Alicia Caso-González +6 more
doaj +1 more source
Orphan drug development in alpha-1 antitypsin deficiency
Scientific Reports, 2022 Alpha-1 antitrypsin deficiency (AATD, OMIM #613490) is a rare metabolic disorder affecting lungs and liver. The purpose of this study is to assess the impact of the US orphan drug act on AATD by providing a quantitative clinical-regulatory insight into ...
Franziska C. Trudzinski +4 more
doaj +1 more source
Changing incentives to ACCELERATE drug development for paediatric cancer
Cancer Medicine, 2023 Background More effective incentives are needed to motivate paediatric oncology drug development, uncoupling it from dependency on adult drug development.
Teresa deRojas +10 more
doaj +1 more source
The case of eculizumab: litigation and purchases by the Brazilian Ministry of Health
Revista de Saúde Pública, 2020 OBJECTIVES This study examined the purchases of eculizumab, a high-cost monoclonal antibody used in the treatment of rare diseases by Brazilian federal agencies, in terms of purchased quantities, expenditures, and prices.
Rosângela Caetano +4 more
doaj +2 more sources
New role of extemporaneous manufacturing in regulating drug products access onto the market
Фармация и фармакология (Пятигорск), 2023 The aim of the work was to study the legal aspects of the legislative regulation for manufacturing medicines in a pharmacy organization.Materials and methods.
A. V. Alekhin +5 more
doaj +1 more source
One‐pot synthesis of 6‐aminohexanoic acid from cyclohexane using mixed‐species cultures
Microbial Biotechnology, 2021 Summary 6‐Aminohexanoic acid (6AHA) is a vital polymer building block for Nylon 6 production and an FDA‐approved orphan drug. However, its production from cyclohexane is associated with several challenges, including low conversion and yield, and severe ...
Lisa Bretschneider +4 more
doaj +1 more source
Gene and Cell Therapies Overview Under the Light of Health Economics [PDF]
Health Economics and Management Review, 2022 With the increase in drug development studies for rare diseases, gene therapies have recently come to the fore more frequently. In addition to orphan drugs used in the treatment of rare diseases, advanced therapy medicinal products have been developed ...
Ekin Begum Karahan, Guvenc Kockaya
doaj +1 more source
Small heterodimer partner-targeting therapy inhibits systemic inflammatory responses through mitochondrial uncoupling protein 2. [PDF]
PLoS ONE, 2013 The orphan nuclear receptor, small heterodimer partner (SHP), appears to play a negative regulatory role in innate immune signaling. Emerging evidence warrants further study on the therapeutic targeting of SHP to suppress excessive and deleterious ...
Chul-Su Yang +8 more
doaj +1 more source