Results 21 to 30 of about 11,580,920 (364)
Frontiers in Endocrinology, 2022 Rare diseases, such as inherited metabolic diseases, have been identified as a health priority within the European Union more than 20 years ago and have become an integral part of EU health programs and European Reference Networks.
S. Kölker +3 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2022 Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts ...
Galliano Zanello +2 more
semanticscholar +1 more source
Toward transcriptomics as a primary tool for rare disease investigation
Cold Spring Harbor molecular case studies, 2022 In the past 5 years transcriptome or RNA-sequencing (RNA-seq) has steadily emerged as a complementary assay for rare disease diagnosis and discovery. In this perspective, we summarize several recent developments and challenges in the use of RNA-seq for ...
S. Montgomery +2 more
semanticscholar +1 more source
Ollier's Disease - Rare Presentation of the Rare Disease.
Journal of orthopaedic case reports, 2021 Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease.A 13-year-old male with multiple ...
Singh, Sukhmin +4 more
openaire +2 more sources
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
openaire +4 more sources
Is gastric cancer becoming a rare disease? A global assessment of predicted incidence trends to 2035
Gut, 2020 Objectives The incidence of gastric cancer continues to decrease globally, approaching levels that in some populations could define it as a rare disease.
M. Arnold +5 more
semanticscholar +1 more source
What role can decentralized trial designs play to improve rare disease studies?
Orphanet Journal of Rare Diseases, 2022 People affected by rare diseases want to be involved in research and the search for new treatments. Randomized controlled trials remain the best way of finding new interventions, but many elements of traditional study design are not best suited for rare ...
J. Moore +3 more
semanticscholar +1 more source
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.
openaire +2 more sources
The definition of rare disease in China and its prospects.
Intractable & Rare Diseases Research, 2022 The latest definition of rare disease in China was released on September 11, 2021 at the third multidisciplinary expert seminar on the definition of rare diseases/orphan drugs in China.
Yan-qin Lu, Jinxiang Han
semanticscholar +1 more source
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
openaire +2 more sources