Results 21 to 30 of about 7,998,845 (308)

Biomarkers in Rare Diseases [PDF]

International Journal of Molecular Sciences, 2021
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
openaire   +2 more sources

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

, 2020
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer ...

core   +1 more source

An unusual unifocal presentation of Castleman’s disease in a young woman with a detailed description of sonographic findings to reduce diagnostic uncertainty: a case report [PDF]

, 2013
Background: Castleman’s disease is a rare lymphoproliferative disorder. It typically presents as mediastinal masses and causes a wide range of clinical symptoms.
Zerrin Maden, Norbert Wagner, Wagner, Norbert, Maden, Zerrin   +3 more
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Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
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Comprehensive Analysis of METTLs (METTL1/13/18/21A/23/25/2A/2B/5/6/9) and Associated mRNA Risk Signature in Hepatocellular Carcinoma

Analytical Cellular Pathology, 2023
Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang, Shangshang Hu, Junjie Nie, Xiaodan Qin, Xu Zhang, Qian Wang, John Zhong Li   +6 more
doaj   +1 more source

Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis

罕见病研究
Hereditary transthyretin amyloidosis(ATTRv) is a rare autosomal dominant multisystem disease caused by pathogenic variations in the TTR gene, mainly affecting peripheral nerves, heart, digestive tract, eyes, kidneys, and leptomeninges, among others.
Rare Disease Branch of Chinese Medical Association, Rare Disease Branch of Beijing Medical Association   +1 more
doaj   +1 more source

Drug target gene-based analyses of drug repositionability in rare and intractable diseases

Scientific Reports, 2021
Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
doaj   +1 more source

The Chinese Management Consensus on Compassionate Use of Investigational New Drugs in Medical Institutions(2026)

Xiehe Yixue Zazhi
In accordance with the Pharmaceutical Administration Law of the People's Republic of China revised in 2019 and the Implementing Regulations of the Pharmaceutical Administration Law of the People's Republic of China effective in 2026, Peking Union Medical
Rare Disease Collaborative Group, Peking Union Medical College Hospital, Professional Committee on Rare Disease Drugs, Chinese Pharmaceutical Association, Rare Disease Branch, Chinese Medical Association   +2 more
doaj   +1 more source

Lipedema, a Rare Disease [PDF]

Annals of Rehabilitation Medicine, 2011
Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Shin, Bae Wook, Sim, Young-Joo, Jeong, Ho Joong, Kim, Ghi Chan   +3 more
openaire   +2 more sources

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source