Publications by authors named "Ania Alejandra Guzman-Santiago"
Article Synopsis
- Rare diseases (RDs) are uncommon, often genetic conditions that can take a long time (5-10 years) and multiple specialist evaluations to diagnose due to a lack of standard definitions.
- A study in Puebla, Mexico, reviewed 798 patient records from a Medical Genetics Service and found a RD prevalence of 27%, identifying 118 different RDs, while 11 out of 20 officially recognized RDs in Mexico were detected in 35 patients, resulting in a 4.3% prevalence.
- The findings highlight that the classification of RDs can vary, and recent changes in Mexico's recognition of these diseases could improve resources and support for affected individuals.