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Next Generation Sequencing || Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

✍ Scribed by Wong, Lee-Jun C.


Book ID
120486914
Publisher
Springer New York
Year
2013
Weight
177 KB
Category
Article
ISBN
1461470013

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## Abstract Congenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) pr