Background Mutations in NANS, encoding sialic acid synthase, cause skeletal dysplasia
and developmental delay. Previous research appeared indicative for sialic acid deficiency …

We identified biallelic mutations in NANS, the gene encoding the synthase for N-
acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe …

Background In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase
(NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) …

NANS‐CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in
NANS, encoding an essential enzyme in de novo sialic acid synthesis. It presents with …

Sialic acids are important components of glycoproteins and glycolipids essential for cellular
communication, infection, and metastasis. The importance of sialic acid biosynthesis in …

Biallelic genetic variants in N-acetylneuraminic acid synthase (NANS), a critical enzyme in
endogenous sialic acid biosynthesis, are clinically associated with neurodevelopmental …

We report clinical and molecular findings in three Japanese patients with N-
acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient …

N-acetylneuraminic acid (sialic acid) is an abundantly found carbohydrate moiety covering
the surface of all vertebrate cells and secreted glycoproteins. The human N …

Following publication of this article, the authors were asked to remove a clinical image and
some video footage of one of the affected individuals. Although consent was obtained, in …

Background Sialylation of glycoproteins and glycolipids is important for biological processes
such as cellular communication, cell migration and protein function. Biosynthesis of CMP …