Omics Study For CDG Patient

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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.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at mccormicke [at] chop.edu or 267-426-9650.

Eligibility & Criteria

IRB #:
14-011223
Official Title:
Intergrated Omics Characterization Of Congenital Disorders Of Glycosylation
Study Phase:
Not Applicable
Eligible Age Range:
0 - 85 Years
Gender:
All
Study Categories:

Leader

Miao He, PhD