Results 191 to 200 of about 68,610 (290)

Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen). [PDF]

Orphanet J Rare Dis
Kumar A, Shukla S, Rai A, Pathak P, Narayan KP.   +4 more
europepmc   +1 more source

Epidemiology, Risk Factors and Pathophysiology of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease: An Update

JCC Plus, Volume 1, Issue 3, May 2026.
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) represent a unique clinical syndrome affecting up to 80% of PSC patients, characterised by distinct epidemiological patterns, pathophysiological mechanisms and clinical outcomes that differ substantially from either condition occurring independently ...
Luisa Bertin, Paul Henderson, Richard Pollok, Natália Queiroz, Luca Fabris, Edoardo Vincenzo Savarino, Iago Rodríguez‐Lago, Brigida Barberio   +7 more
wiley   +1 more source

Multi-criteria decision analysis of value evaluation of rare disease medical insurance drugs in China. [PDF]

BMC Public Health
Chen K, Duan Y, Cao Z, Wu Y, Wang J, Jiang B, Gu R.   +6 more
europepmc   +1 more source

Evaluation and Valuation of the Price of Expensive Medicinal Products: Application of the Discounted Cash Flow to Orphan Drugs

International Journal of Rare Diseases & Disorders, 2018
Nuijten Mark, Fugel Hans Joerg, Vis Jan
openaire   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Isocitrate Dehydrogenase Mutations in Cancer: From Bench to Bedside Applications

MedComm, Volume 7, Issue 5, May 2026.
Mutant isocitrate dehydrogenase affects multiple cancer types. Alterations in IDH1 and IDH2 result in abnormal enzyme activity, leading to the overproduction of D‐2‐hydroxyglutarate (D‐2HG). This metabolite disrupts cellular metabolism and epigenetic regulation, driving cancer initiation, progression, and metastasis.
Yuhan Fang, Xiaoqing Wang, Kai Luo, Tikam Chand Dakal, He Bai, Caiming Xu, Guixin Zhang   +6 more
wiley   +1 more source

From co-creation to compounding value: A new model of rare disease science communication in China. [PDF]

Intractable Rare Dis Res
Chen Y.
europepmc   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Advances in Cell and Gene Therapy for Rare Disease Treatment. [PDF]

Int J Stem Cells
Baek HJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

Analysis of Mandatory Post‐Marketing Surveillance Studies Supports Revised Regulatory Requirements in Korea

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Purpose The objective of this analysis was to determine the contribution to the understanding of product benefit/risk made by non‐randomized, observational post‐marketing surveillance (PMS) studies previously required by the Ministry of Food and Drug Safety (MFDS) re‐examination system and conducted by Pfizer in Korea over 2000–2024. Methods A
Kevin Wolter, Seung‐Hee Jeong, Ju‐Won Woo, Eunsol Kim, Yoosun Lee, Sera Cha, Evelyn Moy, Rod Junor   +7 more
wiley   +1 more source