In the future, stratified therapy for rare paediatric disease based on the specific genetic diagnosis is likely to be possible, and effective and affordable therapies are likely to become available through drug repurposing and innovation.Abstract The majority of rare diseases affect children, most of ...
25 Years of ESPED as a Surveillance Tool for Rare Diseases in Children in Germany: A Critical Analysisincidencesurveillance systemsrare diseasescapture-recapture methodCenter for Disease Control and Prevention (CDC)International Network of Paediatric Surveillance Units (INoPSU)...
Great Ormond Street Hospital is an acclaimed institution, and their new Zayed Centre for Research is being developed in a partnership between University College London and the Hospital. The building will contain an outpatients’ clinic, laboratories, specialist equipment rooms and workplaces for research...
aneurodevelopmental disorderlinked to the X chromosome that's characterized by seizures, intellectual disability, and behavioral disturbances. Children born with this devastating disease typically also exhibit physical symptoms, including distinctive facial features and growth...
In China, about 5.6 percent of children are born with a congenital deformity, that is 1 million newborn babies each year. Prenatal deformities and rare diseases have seriously affected children’s health and overall population quality. Prevention is the key to avoid deformity and rare disease. A...
in Spain have created a test that determines which children with CAD deficiency—a rare metabolic disease—are likely to benefit from receiving uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition. The study was published inGenetics in ...
Anesthesiological considerations for children with obstructive sleep apnea Purpose of review Coté,J Charles - 《Current Opinion in Anaesthesiology》 被引量: 0发表: 2015年 Case Report: Anesthesia in Patient with Segawa's Disease. Buriram Hospital, Thailand Segawa's disease is a rare hereditary dis...
While this can be frustrating for patients, countries with limited financial resources have no choice but to prioritize by identifying unmet medical needs in clinical practice, such as whether there are existing affordable alternatives, the severity of the disease, and the number of patients. That ...
Other rare diseases could be the result of an infection or allergy. In many cases theexact cause is unknown. Some cancers are also rare diseases. Rare diseases tend to appear in childhood. Approximatelytwo-thirds of those living with a rare diseaseare children. They are, unfortunately, usually...
This volume is, as may be readily apparent, the fruit of many years' labor in archives and libraries, unearthing rare books, researching Nachlässe, and ... G Schubring - Springer New York 被引量: 123发表: 2005年 A Bayesian analysis for spatial processes with application to disease mapping...