Omics Study for CDG Patient


This is an integrated study of patients with congenital glycosylation disorder, including genetic conditions in the synthesis of glycoconjugates (congenital disorder of glycosylation), 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 nucleotide sugar metabolism, such as galactosemia, fructose intolerance, or certain glycogen storage conditions). Study methods includes glycomics analysis of body fluid or cells or tissues from patients, relevant metabolomics and genomics analysis. IRB 14-011223

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