Results 11 to 20 of about 1,609,120 (298)
International Journal of Integrated Care, 2021 The COVID-19 pandemic has brought about health and social care disruptions for millions of people with complex health needs and disabilities, who are amongst the most vulnerable populations. More than ever before, the need for integrated care is pressing,
Raquel Castro +2 more
doaj +1 more source
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
openaire +2 more sources
Nature Communications, 2021 Glycogen Storage Disease 1a (Gsd1a) is an inherited disorder caused by glucose 6-phosphatase (G6Pase-α) deficiency and characterized by hypoglycaemia and high risk of liver cancer.
Jingsong Cao +39 more
doaj +1 more source
罕见病研究, 2022 Hemophilia is a group of hereditary hemorrhagic diseases. Hemorrhages mostly occur in musculoskeletal system and is the main cause for disability. Rehabilitation plays an important role in the comprehensive management in hemophilia.
Hemophilia Treatment Center Collaborative Network of China +1 more
doaj +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Scientific Reports, 2021 Mutations in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genetic risk factor for developing synucleinopathies including Parkinson’s disease (PD).
Catherine Viel +8 more
doaj +1 more source
Generating health technology assessment evidence for rare diseases [PDF]
, 2014 Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen +6 more
core +1 more source
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]
, 2015 Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh +49 more
core +7 more sources
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Model consent clauses for rare disease research [PDF]
, 2019 Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing.
Goldblatt, Jack +15 more
core +1 more source