With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of r...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03188-9
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness,...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03185-y
This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders an...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03191-0
Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to ch...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03131-y
Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03087-z