Results 21 to 30 of about 4,553,133 (313)
Identifying Rare Events in Rare Diseases [PDF]
Clinical Cancer Research, 2015 Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F, Attiyeh, John M, Maris
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Developing Methodology for the Creation of Clinical Practice Guidelines for Rare Diseases : A Report from RARE-Bestpractices [PDF]
, 2015 Date of Acceptance: 29/05/2015 The research leading to these results has received funding from the (FP7/2007–2013), under grant agreement n 305690 (RARE-Bestpractices project). The opinions, presented here reflect only the authors’ views.
RARE-Bestpractices Consortium
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Rare diseases and orphan drugs: Latvian story [PDF]
, 2014 Publisher Copyright: © 2014 Logviss et al.; licensee BioMed Central Ltd.Background: Ten years have passed since Latvia became a Member State of the EU in 2004.
Logviss, Konstantins +2 more
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The line between COVID-19 pandemic and rare bone diseases
, 2020 Rare diseases, Ostoporosis, Osteogenesis Imperfecta ...
Giovanni Adami +3 more
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, 2022 A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000-8000 rare diseases (RDs) affecting over 400 million people world-wide.
Lundgren, Jenny, +2 more
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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 [...]
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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
Orphanet Journal of Rare Diseases, 2020 Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez +12 more
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Orphanet Journal of Rare Diseases, 2022 Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes +6 more
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An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]
, 2020 The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI +2 more
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Complement Inhibitors in Rare Diseases
, 2022 The complement system is a self-protection mechanism of the human body. The abnormal activation of the complement system is involved in the occurrence and development of various diseases. The application of complement inhibitors in many rare diseases was
CHEN Limeng +5 more
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