Relevant bibliographies by topics / Office of Rare Diseases

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Office of Rare Diseases'

Author: Grafiati
Published: 4 June 2021
Last updated: 28 July 2025

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Journal articles on the topic "Office of Rare Diseases"

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Dickson, D. W., C. Bergeron, S. S. Chin, et al. "Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration." Journal of Neuropathology & Experimental Neurology 61, no. 11 (2002): 935–46. http://dx.doi.org/10.1093/jnen/61.11.935.

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GROFT, STEPHEN C. "Fostering Research Partnerships: A Perspective From the Office of Rare Diseases (ORD)." Retina 25, Supplement (2005): S86. http://dx.doi.org/10.1097/00006982-200512001-00042.

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Kleta, Robert, Frederick Kaskel, Ranjan Dohil, et al. "First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future." Pediatric Nephrology 20, no. 4 (2005): 452–54. http://dx.doi.org/10.1007/s00467-004-1777-5.

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Jo, Ara, Samantha Larson, Peter Carek, Michael R. Peabody, Lars E. Peterson, and Arch G. Mainous. "Prevalence and practice for rare diseases in primary care: a national cross-sectional study in the USA." BMJ Open 9, no. 4 (2019): e027248. http://dx.doi.org/10.1136/bmjopen-2018-027248.

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ObjectivesThere are more than 7000 rare diseases in the USA, and they are prevalent in 8% of the population. Due to life-threatening risk and limited therapies, early detection and treatment are critical. The purpose of this study was to explore characteristics of visits for patients with rare diseases seen by primary care physicians (PCPs).DesignThe study used a cross sectional study using a national representative dataset, the National Ambulatory Medical Care Survey for the years 2012–2014.SettingPrimary care setting.ParticipantsVisits to PCPs (n=22 306 representing 354 507 772 office visits
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Leśniowska, Joanna. "Economic Burden of Rare Diseases With Common Diseases as a Comorbidity in Poland." Problemy Zarządzania - Management Issues 2/2020, no. 88 (2020): 103–20. http://dx.doi.org/10.7172/1644-9584.89.6.

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Purpose: Some of the common diseases are the comorbidities of rare diseases and they impose a considerable economic burden on the national health care system and economy. We examined the economic burden of a rare disease (tuberous sclerosis complex – TSC) in Poland and its comorbidities (common diseases – epilepsy and status epilepticus) while taking into account a sensitivity analysis. Design/Methodology/Approach: This study is a prevalence-based top-down cost of illness study that analyzes the direct and indirect cost of TSC and its complications. The research was based on the data obtained
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Sirbu, Carmen Adella, Raluca Ivan, Francois Jerome Authier, et al. "Orphan Drugs in Neurology—A Narrative Review." Journal of Personalized Medicine 13, no. 3 (2023): 420. http://dx.doi.org/10.3390/jpm13030420.

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Background and aims: Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment. With this paper, we aim to present some of the orphan neurological diseases for which new drugs have been developed lately. Methods: We have conducted a litera
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Ashari, Noor Suryani Mohd, and Wan Zuraida Wan Abdul Hamid. "A Rare Case of Ataxia Telangiectasia in Malaysia." Bangladesh Journal of Medical Science 16, no. 1 (2017): 154–56. http://dx.doi.org/10.3329/bjms.v16i1.31151.

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Ataxia telangiectasia is a primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia. Ataxia telangiectasia is listed as a rare disease by the Office of Rare Diseases [ORD] of the National Institutes of Health [NIH]. Because ataxia telangiectasia is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. Not all children develop in the same manner or at the same rate; it may be some years before ataxia telangiectasia is properly
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Cunico, Cássia, Geison Vicente, and Silvana Nair Leite. "Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases." Orphanet Journal of Rare Diseases 18 (August 31, 2023): 259. https://doi.org/10.1186/s13023-023-02881-5.

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<strong>Abstract</strong><strong>Background</strong>: Rare diseases affect a small number of people compared to prevalent diseases. The vast majority of these diseases are of genetic origin, have no cure, are chronic and can lead to death. Although the right to access medicines is included in the constitutionally guaranteed right to health in Brazil, problems in the supply of medicines for rare diseases are reported in the country. This study aimed to describe and analyse the initiatives to promote access to medicines for treating rare diseases in the Unified Health System, Brazil, after the p
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Patel, Soumya, and Katherine I. Miller Needleman. "FDA’s Office of Orphan Products Development: providing incentives to promote the development of products for rare diseases." Journal of Pharmacokinetics and Pharmacodynamics 46, no. 5 (2019): 387–93. http://dx.doi.org/10.1007/s10928-019-09645-4.

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Agrawal, Lata, HK Premi, Disha Shakya, and Tripti Gupta. "Gestational Gigantomastia: A Rarity." International Journal of Advanced and Integrated Medical Sciences 1, no. 1 (2016): 13–14. http://dx.doi.org/10.5005/jp-journals-10050-0005.

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ABSTRACT Hypertrophy of the breast is a rare medical condition of breast connective tissue. It is listed as a ‘rare disease’ by the ‘Office of Rare Diseases’ of National Institute of Health (NIH). A woman aged 20 years presented to our antenatal clinic in her first pregnancy at 23 weeks of gestation with excessive enlargement of breasts since conception. Although its etiology has yet to be clarified, it has been associated with the response of breast receptors to gestational hormones. Gestational gigantomastia is a complication whose etiology and pathogenesis have yet to be fully clarified. Ho
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Dissertations / Theses on the topic "Office of Rare Diseases"

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Bhatia, Gaurav. "Rare variant analysis for common diseases." Diss., [La Jolla] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p1467448.

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Thesis (M.S.)--University of California, San Diego, 2009.<br>Title from first page of PDF file (viewed August 25, 2009). Available via ProQuest Digital Dissertations. Includes bibliographical references (p. 20-23).
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Bayar, Mohamed Amine. "Randomized Clinical Trials in Oncology with Rare Diseases or Rare Biomarker-based Subtypes." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS441.

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Le design standard des essais randomisés de phase III suppose le recrutement d'un grand nombre de patients pour assurer un risque α de 0.025 unilatéral et une puissance d'au moins 80%. Ceci s'avérer difficile dans les maladies rares, ou encore si le traitement cible une population spécifique définie par un sous-type moléculaire rare. Nous avons évalué par simulation la performance d'une série d'essais randomisés. Au terme de chaque essai, s'il est associé à une amélioration significative, le traitement expérimental devient le contrôle de l'essai suivant. Les designs ont été évalués pour différ
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McElvenny, D. M. "Meta-analysis of rare diseases in occupational epidemiology." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2017. http://researchonline.lshtm.ac.uk/3894558/.

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At the outset of this research in the early 2000s, the application of meta-analysis in observational epidemiology, including occupational epidemiology was regarded as controversial because of the greater potential for bias in such studies compared with randomized controlled clinical trials. This remains true even in 2017. The overall aim for this research is to identify the best approaches to the use of meta-analysis in the occupational health setting, and to summarise through meta-analysis the evidence at to whether or not occupational exposure to formaldehyde is an occupational carcinogen. C
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Greene, Daniel John. "Methods for determining the genetic causes of rare diseases." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/270546.

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Thanks to the affordability of DNA sequencing, hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many unexplained rare diseases is hindered by a paucity of cases with a shared molecular aetiology. This thesis presents research into statistical and computational methods for determining the genetic causes of rare diseases. Methods described herein treat important aspects of
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Ndungu, Anne. "Rare genetic variants and susceptibility to severe bacterial diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9c5745f9-50f9-469a-8771-2e49e75db7ac.

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Infectious diseases are a major cause of morbidity and mortality worldwide. Streptococcus pneumoniae and Neisseria meningitidis are major causes of severe bacterial disease which can manifest as invasive disease such as bacteraemia and meningitis. Exposure to these pathogens is relatively widespread, yet only a minority of individuals develop invasive disease. A host genetic component to infectious disease susceptibility has been implied from twin and adoptee studies. A role for rare large effect genetic variants in predisposition to infection has been demonstrated through the study of individ
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Gopalakrishna-Remani, Venugopal. "Information Supply Chain System for Managing Rare Infectious Diseases." Kent State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=kent1341245050.

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BOTTANI, EMANUELA. "Mitochondrial diseases: from gene function to therapy." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94380.

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Le malattie mitocondriali sono disturbi genetici caratterizzati da difetti di fosforilazione ossidativa causati da mutazioni nel DNA mitocondriale, o in geni nucleari i cui prodotti sono legati alla fosforilazione ossidativa o alla biologia mitocondriale. La prima parte del progetto è stata focalizzata sulla generazione e la caratterizzazione di un modello murino di malattia mitocondriale, Ttc19ko. I pazienti con mutazioni in TTC19 sviluppano danni neurologici e deficit di complesso III. Ttc19 è una proteina mitocondriale che sembra essere coinvolta nell’assemblaggio e/o stabilità del compless
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Li, Yali. "DETECTING ASSOCIATION OF COMMON AND RARE VARIANTS WITH COMPLEX DISEASES." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270176845.

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Maguire, Joseph, Iskandarani Mahmoud El, Sudharsan Aswin Elamparithi, Apurva Bansal, and Thad Snyder. "A Rare Case of Tolosa-Hunt Syndrome." Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/asrf/2018/schedule/96.

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Tolosa-Hunt syndrome is a rare neurological disorder with an incidence of one case per million. It is a granulomatous inflammatory condition that affects the cavernous sinus and is characterized by painful ophthalmoplegia and headaches. We present a 57-year-old male veteran with past medical history of alcohol use disorder, hepatitis c, hypertension and tobacco use who presented with complaints of double vision and headaches for 2 days. The patient also had a history of well controlled cluster headaches treated with sumatriptan. But, he reported that from several days prior to admission, the
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Naili, Abdallah. "A Multi Criteria Approach for The Assessment of Drugs for Rare Diseases." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/35067.

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Evaluating Drugs for Rare Diseases (DRDs) for the purpose of reimbursement and beyond represents a tremendous challenge for most health care priorities. A consensus is set about the irrelevance of cost e ectiveness analysis to evaluate such drugs. The appeal for multi criteria decision aid models seems reasonable as the evaluation of DRDs is indeed multifaceted. However, the application of MCDA for the purpose of evaluating DRDs is yet primitive and simplistic. The present work tries to tackle the issue of evaluating DRDs from a decision maker angle by adopting an innovative robust ord
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Books on the topic "Office of Rare Diseases"

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US GOVERNMENT. Rare Diseases Act of 2002. U.S. G.P.O., 2002.

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Resources, United States Congress Senate Committee on Labor and Human. Office for Rare Disease Research Act of 1995: Report (to accompany S. 184). U.S. G.P.O., 1995.

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United States. Congress. Senate. Committee on Labor and Human Resources. Office for Rare Disease Research Act of 1994: Report (to accompany S. 1203). U.S. G.P.O., 1994.

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Özgüç, Meral, ed. Rare Diseases. Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-9214-1.

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Posada de la Paz, Manuel, and Stephen C. Groft, eds. Rare Diseases Epidemiology. Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9485-8.

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Cherian, Sujith V., and Anupam Kumar. Rare Lung Diseases. CRC Press, 2023. http://dx.doi.org/10.1201/9781003089384.

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Stub, Sara Toth. Conquering Rare Diseases. CQ Press, 2020. http://dx.doi.org/10.4135/cqresrre20200124.

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Valverde, José Luis. Rare diseases: Focus on rare plasma related disorders. IOS Press, 2009.

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Pryde, David C., and Michael J. Palmer, eds. Orphan Drugs and Rare Diseases. Royal Society of Chemistry, 2014. http://dx.doi.org/10.1039/9781782624202.

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Martín, Javier, and Francisco David Carmona, eds. Genetics of Rare Autoimmune Diseases. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03934-9.

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Book chapters on the topic "Office of Rare Diseases"

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Regina, Micaela La, Alessandra Vecchié, Aldo Bonaventura, and Domenico Prisco. "Patient Safety in Internal Medicine." In Textbook of Patient Safety and Clinical Risk Management. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-59403-9_17.

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AbstractHospital Internal Medicine (IM) is the branch of medicine that deals with the diagnosis and non-surgical treatment of diseases, providing the comprehensive care in the office and in the hospital, managing both common and complex illnesses of adolescents, adults, and the elderly. IM is a key ward for Health National Services. In Italy, for example, about 17.3% of acute patients are discharged from the IM departments. After the epidemiological transition to chronic/degenerative diseases, patients admitted to hospital are often poly-pathological and so requiring a global approach as in IM
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Castro, Raquel, Juliette Senecat, Myriam de Chalendar, et al. "Rare Diseases." In Handbook Integrated Care. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56103-5_25.

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Nahler, Gerhard. "rare diseases." In Dictionary of Pharmaceutical Medicine. Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-89836-9_1185.

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Maconi, Giovanni, Elena Bolzacchini, and Cristina Bezzio. "Rare Diseases." In Imaging of Perianal Inflammatory Diseases. Springer Milan, 2013. http://dx.doi.org/10.1007/978-88-470-2847-0_16.

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Tonolini, Massimo. "Rare Diseases." In Imaging of Perianal Inflammatory Diseases. Springer Milan, 2013. http://dx.doi.org/10.1007/978-88-470-2847-0_27.

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Castro, Raquel, Myriam de Chalendar, Ildikó Vajda, et al. "Rare Diseases." In Handbook Integrated Care. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-69262-9_44.

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Gündoğdu Öğütlü, Özge Beyza. "Rare Diseases." In The Palgrave Encyclopedia of Disability. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-40858-8_425-1.

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Zeps, Nikolajs, and Chris Hemmings. "Rare Cancers." In Rare Diseases. Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9214-1_8.

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Ferrari, Camilla, Benedetta Nacmias, and Sandro Sorbi. "Rare Dementias." In Neurodegenerative Diseases. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-72938-1_15.

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Molnar, Maria Judit, and Klara Pentelenyi. "Mitochondrial Diseases." In Rare Diseases. Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9214-1_5.

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Conference papers on the topic "Office of Rare Diseases"

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Araya, David, Javier Márquez, Nicole Nakousi, and Carla Taramasco. "Bayesian Network to Support Diagnosis of Rare Diseases in Chile." In 2024 L Latin American Computer Conference (CLEI). IEEE, 2024. http://dx.doi.org/10.1109/clei64178.2024.10700061.

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Koraag, Meiske Elisabeth. "INCIDENCE OF DENGUE HEMORRHAGIC FEVER AFTER THE EARTHQUAKE IN CENTRAL SULAWESI INDONESIA." In International Conference on Public Health. The International Institute of Knowledge Management, 2021. http://dx.doi.org/10.17501/24246735.2020.6105.

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The earthquake can cause a potential transmission of the disease after the disaster. One of the infectious diseases that could potentially be a post-earthquake outbreak is Dengue Hemorrhagic Fever (DHF). The earthquake, followed by a tsunami and liquefaction that struck Palu's city, Sigi's regency, and the regency of Donggala in Central Sulawesi in September 2018, led to the increased transmission of the dengue hemorrhagic fever disease in all three regions. This research aims to determine the incidence rate of DHF in the affected areas of the earthquake disaster in Central Sulawesi. The data
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Kuzmina, L. P., A. A. Kislyakova, and L. M. Bezrukavnikova. "THE PREVALENCE OF ENDOCRINE AND CARDIOVASCULAR PATHOLOGY AMONG WORKERS EXPOSED TO MAGNETIC FIELDS." In The 16th «OCCUPATION and HEALTH» Russian National Congress with International Participation (OHRNC-2021). FSBSI “IRIOH”, 2021. http://dx.doi.org/10.31089/978-5-6042929-2-1-2021-1-293-295.

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Abstract: The negative side of the high rate of development of the electric power industry is the increase in the influence of electromagnetic radiation on humans. Unlike an electric field, a magnetic field is not shielded by personal protective equipment. Personnel exposed to industrial frequency magnetic fields are exposed to the negative effects of radiation on the nervous, cardiovascular, immune, and endocrine systems. Objective: to study and analyze the prevalence of diseases of the endocrine and cardiovascular systems in workers employed in the electric power industry. Materials and meth
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Adenekan, T. E., and C. Omoye Idiake. "Office Management in the COVID-19 Era 1Adenekan, T." In 27th iSTEAMS-ACity-IEEE International Conference. Society for Multidisciplinary and Advanced Research Techniques - Creative Research Publishers, 2021. http://dx.doi.org/10.22624/aims/isteams-2021/v27p28.

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By the time the World Health Organization ("WHO") upgraded the status of the novel Coronavirus Disease (officially known as COVID-19) outbreak from an epidemic to a global pandemic on 11th March, 2020, the virus had already travelled beyond Wuhan, China, its point of original outbreak in December 2019 and crossed international borders. Given the rapid rate of infection and increasing number of deaths in the wake of the unprecedented spread of the virus, various emergency measures were urgently deployed by local, state, national and multilateral authorities to contain the outbreak. Besides bein
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Albelda-Estellés Ness, Maria Coral. "Indoor relative humidity: relevance for health, comfort, and choice of ventilation system." In 3rd Valencia International Biennial of Research in Architecture, VIBRArch. Editorial Universitat Politècnica de València, 2022. http://dx.doi.org/10.4995/vibrarch2022.2022.15237.

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It is generally recommended to keep the values of relative humidity (RH) indoors between 40 and 60% for comfort and health. However, the environment in our homes and offices is a lot dryer in the winter, going down to 20% or less in cold climates. We can be in such dry environments for short periods, but in the long term we might get physiological impairments such as dry or irritated eyes, nose, throat and skin, and even an increase on headaches and respiratory or skin diseases and allergies. On the other hand, too high values of relative humidity can promote growth of fungi and mites, and cre
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Novaković, Ivana, Milena Janković, Ana Marjanović, Marija Branković, Marina Svetel, and Jasna Jančić. "Challenges in rare diseases: The example of mitochondrial diseases." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24114n.

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Background: Mitochondrial diseases are a group of disorders caused by dysfunction of mitochondria - the organelles that generate energy for the cell by converting the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases are one of the most common groups of rare diseases with a minimum prevalence of greater than 1 in 5000 in adults. Clinical manifestations of mitochondrial diseases are heterogonous, mostly affecting nervous and muscle systems and sensory organs; symptoms can appear at birth or they may not appear until adulthood These diseases have genet
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Reumann, Matthias, Andrea Giovannini, Bartosz Nadworny, Christoph Auer, Ivan Girardi, and Chiara Marchiori. "Cognitive DDx Assistant in Rare Diseases." In 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2018. http://dx.doi.org/10.1109/embc.2018.8513041.

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"COLLABORATIVE IT PLATFORM FOR RARE DISEASES." In International Conference on Health Informatics. SciTePress - Science and and Technology Publications, 2011. http://dx.doi.org/10.5220/0003171003090314.

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Neff, Michaela Christina, Jannik Schaaf, Jörg Scheidt, Andreas Khouri, Thomas Zerr, and Holger Storf. "SelEe- Rare diseases citizen science research." In Austrian Citizen Science Conference 2022. Sissa Medialab, 2023. http://dx.doi.org/10.22323/1.407.0024.

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Taylor, Stephen, and Aditi Kantipuly. "Demo: Sonic Catalog of Rare Diseases." In FARM '23: 11th ACM SIGPLAN International Workshop on Functional Art, Music, Modelling, and Design. ACM, 2023. http://dx.doi.org/10.1145/3609023.3609807.

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Reports on the topic "Office of Rare Diseases"

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swift, evo. Rare Diseases in Southeast Asia: Definition of Rare disease. ResearchHub Technologies, Inc., 2025. https://doi.org/10.55277/researchhub.o5ed1hmh.

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Bainbridge, Kath. Rare Diseases Research Landscape Project Report. National Institute for Health and Care Research, 2023. http://dx.doi.org/10.3310/nihropenres.1115214.1.

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Dubief, Jessie, Anna Kole, Erwan Berjonneau, and Sandra Courbier. Rare disease patients’ opinion on the future of rare diseases. EURORDIS-Rare Diseases Europe, 2021. https://doi.org/10.70790/pwor1849.

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Castillo Esparcia, A., P. López Villafranca, and MC Carretón Ballester. Online communication of patients with rare diseases in Spain. Revista Latina de Comunicación Social, 2015. http://dx.doi.org/10.4185/rlcs-2015-1065en.

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Kidwell, Kelley M., Roy N. Tamura, Thomas M. Braun, Boxian Wei, Yan-Cheng Chao, and Holly Hartman. Improving Trial Design and Analysis for Treatments for Rare Diseases. Patient-Centered Outcomes Research Institute (PCORI), 2020. http://dx.doi.org/10.25302/11.2020.me.150731108.

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Lichtenberg, Frank. The Effect of New Drugs on Mortality from Rare Diseases and HIV. National Bureau of Economic Research, 2001. http://dx.doi.org/10.3386/w8677.

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Baynam, Gareth. Why life is about to get better for patients with rare diseases. Edited by Sara Phillips. Monash University, 2023. http://dx.doi.org/10.54377/d2ec-e456.

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Sandra, Courbier. Access to treatment: unequal care for European rare disease patients. A Rare Barometer survey. EURORDIS-Rare Diseases Europe, 2017. https://doi.org/10.70790/kody7492.

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This report presents the results of the 2017 Rare Barometer survey on rare disease patients’ access to treatment. 1,350 people living with a rare disease and family members participated in this survey. Only a very small number of rare diseases have curative treatment, but what is the level of access for existing rare disease treatments, either symptomatic or disease-modifying? Does it really differ from the general population? 1350 Rare Barometer participants told us about their access to treatments, and over a period of 12 months: - 24% of them did not get the medical treatment they needed ov
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Courbier, Sandra, and Erwan Berjonneau. Juggling care and daily life: The balancing act of the rare disease community. EURORDIS - Rare Diseases Europe, 2017. https://doi.org/10.70790/gjrs4859.

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Abstract:
Over 3,000 people living with a rare disease across Europe responded to the Rare Barometer survey ‘Juggling care and daily life: The balancing act of the rare disease community’, which was conducted in the scope of the EU-funded INNOVCare project, focused on promoting person-centred care for rare diseases.
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Dubief, Jessie, Edith Sky Gross, and Fatoumata Faye. Voices on newborn screening: the opinion of people living with a rare disease. EURORDIS - Rare Diseases Europe, 2024. http://dx.doi.org/10.70790/nlmc2114.

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This report presents the European results of the survey ‘Voices on newborn screening: the opinion of people living with a rare disease’, conducted by Rare Barometer within the framework of the European Screen4Care research project. This study gathered the views of more than 6,179 people living with a rare disease and family members worldwide, 5,569 of whom were living in Europe with more than 1,300 distinct rare diseases, hence representing the diversity of the rare disease community. Respondents’ answers confirm the strong support for newborn screening from the rare disease community. They al
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