Results 101 to 110 of about 13,095,395 (361)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar +7 more
wiley +1 more source
Appraisal Concerns for the Clinical Research and Development of Drugs for Rare Diseases [PDF]
, 2022 The incidence of each of the rare disease is very low. The complexity and diagnosis difficulty of the rare disease lead to the difficulties in the clinical research and development (R&D) of drugs for rare diseases.
AI Xing +7 more
core +1 more source
Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions
罕见病研究Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj +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
How many rare diseases are there?
Nature reviews. Drug discovery, 2019 A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases.
M. Haendel +18 more
semanticscholar +1 more source
Knowledge-based approaches to drug discovery for rare diseases
Drug Discovery Today, 2021 The conventional drug discovery pipeline has proven to be unsustainable for rare diseases. Herein, we discuss the recent advances in biomedical knowledge mining applied to discovering therapeutics for rare diseases.
Vinicius M. Alves +10 more
semanticscholar +1 more source
Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas
Pediatric Blood &Cancer, EarlyView.ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall +2 more
wiley +1 more source
Funding rare disease therapies in Australia: ensuring equitable access to health care for all Australians [PDF]
, 2014 This report argues that Australia’s system for funding new therapies that treat rare diseases is in need of reform. Overview In the last 4 years only two new therapies have been approved under Australia’s current program for rare disease therapies ...
core
Whipple's disease with constrictive pericarditis: A rare disease with a rare presentation [PDF]
Canadian Journal of Cardiology, 2009 Whipple's disease is a multisystem disease that can affect the heart with predominantly endocardial and pericardial involvement and, less often, myocardial inflammation. Previously diagnosed at autopsy, cardiac involvement in Whipple's disease is being recognized clinically more often. A 58-year-old man with Whipple's-related constrictive pericarditis,
T, Iqbal +4 more
openaire +2 more sources
The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source