Omics Study For CDG Patient

Omics Study For CDG Patient

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This study is now recruiting. Learn more about enrolling here.

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
IRB Number:
14-011223
Clinical trial phase:
N/A
Official title:
Intergrated Omics Characterization Of Congenital Disorders Of Glycosylation

Related specialties
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