rare diseases
Rare diseases and orphan drugs in eastern european countries
... the rare diseases issue. The topic of people with rare diseases, their human rights to receive information, contemporary medical services and social support are insufficiently discussed in ...
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Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals
... regarding rare diseases, including a lack of data from large-scale ...of rare diseases in China, based on a hospitalization summary reports (HSRs) ...Target Rare Diseases List ...
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From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research
... For rare diseases and for subsets of common diseases alike, government and academic researchers alone can rarely bring new treatments to market and make them available to patients in ...on ...
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A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov
... for rare disease research it is crit- ical to understand how research is implemented to help identify where potential improvements can be ...in rare diseases use fewer participants and have longer ...
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Rare diseases website Developing the Parent to Parent Content of a Rare Disease Website in Ireland
... A previous study, Rare Diseases Web-Information for Families in Ireland study (RD- WIFI) (Nicholl et al. 2014) explored the development of an innovative and culturally appropriate Irish website for parents ...
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A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry
... of rare diseases on different age groups of the population shows the differences in the distribution of the various nosological ...with rare dis- eases is a pediatric ...seen rare ...
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The italian approach to rare diseases and the action of the Italian National Centre for Rare Diseases
... for rare diseases and cost exemptions for related health service ...for rare disease ...of rare diseases, connected to multiregional registries and, through them, the ability to receive ...
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Analyzing rare diseases terms in biomedical terminologies
... among rare diseases, but groups all the synonyms of a given disorder into a single ...6,857 rare disease concepts (and 11,803 synonyms) on its Web site of which about 800 have extensive information ...
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Rare Diseases: understanding this Public Health Priority
... of rare diseases and the scarce attention given to them by national competent authorities and the pharmaceutical industry has lead to the creation of associations of patients and ...parents. Rare ...
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The European Union action in the field of rare diseases
... on Rare Diseases has been fundamental in identifying the most currently- known human genes and a quarter of the innovative medicinal products that have received market approval in the EU (orphan ...on ...
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Strategies for eliciting and synthesizing evidence for guidelines in rare diseases
... on rare diseases, we proposed an operational ap- proach consistent with GRADE ...specific rare conditions ...of rare disease guide- lines, and the process can parallel that in more common ...
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Social Media Methods for Studying Rare Diseases
... ing access to the online group of Fontan patients, the marked increase in responses was consistent with the information-sharing inherent to social media. Often a participant shared the study with other members of their ...
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The availability and affordability of orphan drugs for rare diseases in China
... a rare disease based on a higher prevalence: less than ...given rare disease affects a small percentage of the population, cumulatively, these diseases have a large impact as greater than 7, 000 ...
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A first description of the Colombian national registry for rare diseases
... of rare dis- eases is between 6–8% ...since rare disease prevalence was 28/100,000 inhabitants ...common diseases recorded in the registry’s present version ...of rare diseases by ...
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Characteristics of patients contacting a center for undiagnosed and rare diseases
... to rare and/or unexplained diseases, most patients who were referred to us suffered from medically “unexplained” conditions ...with rare diseases contacted our center (n = 51; 12 ...
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Insights into rare diseases from social media surveys
... with rare diseases (and their relatives/carers) are often highly motivated to engage in research and particularly so where this involves a small time commitment and little ...
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NLP can help parents to understand rare diseases
... Although epistemic disambiguation is important for text understanding, other text analysis tasks are essential in order to build an effective system that helps parents to understand medical publica- tions related to ...
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Rare Diseases in India: Current Knowledge and New Possibilities
... of rare genetic disorders in India who described their major findings and ongoing ...in rare diseases and noted that over the years they are receiving more and more referrals, indicating a rise in ...
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WA Rare Diseases Strategic Framework
... WA Health is involved in a number of collaborations at a national and international level that are aimed at building capacity in RD research. One important global program is the International Rare Diseases ...
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SpainUDP: The Spanish Undiagnosed Rare Diseases Program
... Undiagnosed Rare Diseases Program”, which has been implemented by the Institute of Rare Diseases Research (IIER) of the Instituto de Salud Carlos III (ISCIII), a governmental organization ...
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