Publications by authors named "Natalie Pogorelc"
Mol Genet Metab
August 2024
Article Synopsis
- The report examines clinical, genetic, and biochemical characteristics of individuals with a confirmed congenital disorder of glycosylation (CDG) participating in the FCDGC Natural History cohort after five years of study.
- A total of 333 subjects were enrolled, with 280 having available genetic data; this included a nearly even split between males and females, with ages ranging from infancy to 71 years.
- The study found developmental delays to be the most common symptom leading to diagnosis, occurring in 77% of participants, with an average delay of 2.7 years from symptom onset to diagnosis, and nearly all individuals displaying some developmental differences at the time of enrollment.
