Omics Study For CDG Patient
Contact
Description
This is an intergrated study of patients with congenital glycosylation disorder, including genetic conditions in the synthesis of glycoconjugates (congenital disorder of glycosyaltion), degradation of glycoconjugates (majority of lysosomal storage conditions), as well as the metabolism of glycoconjugates (such as certain inborn errors of metabolism that involved in nucleitide sugar metabolism, such as galactosemia, fructose intolarance, or certain glycogen storage conditions). Study methods includes glycomics analysis of body fluid or cells or tissues from patients, relevant metabolomics and genomics analysis.
Eligibility and criteria
Related specialties

We need families like you
Your time and participation make a difference in supporting the work of the Research Institute and children in our community. Learn more about opportunities to participate in our research.