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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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Journal of Investigative Medicine High Impact Case Reports, 2016 Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation.
Javier Arias-Stella +2 more
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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.
Bae Wook Shin +3 more
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Rare diseases and now rare data? [PDF]
Nature Reviews Genetics, 2013 Rare disease research is threatened by proposed changes to European privacy laws. Rare disease research is threatened by proposed changes to European privacy laws.
Deborah Mascalzoni +6 more
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Critical care (London, England), 2007 Thrombocytopenia is a common finding in critically ill patients. Heparin-induced thrombocytopenia is an infrequent cause of a low platelet count. Intensivists should use the diagnostic classification system developed by the International Society on Thrombosis and Haemostasis to diagnose heparin-induced thrombocytopenia.
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Public Health Genomics, 2013 <b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra +2 more
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Rare Autoinflammatory Diseases
Turkish Archives of Pediatrics, 2021 Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge +2 more
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A rare presentation of a rare disease [PDF]
Journal of Clinical Pathology, 2003 A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
H Shaikh, Y Steppeler
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Collecting rare diseases [PDF]
F1000Research, 2014 This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
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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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