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Article

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

7 Jun 2021

Abstract excerpt

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role in biological processes such as brain and skeletal development. Here, we present an observational cohort study to delineate the genetic, biochemical, and clinical...

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PMID: 34163424
DOI: 10.3389/fneur.2021.668640

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