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

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

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...

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Main Authors: Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Neurology
Subjects:
congenital disorder of glycosylation
glycosylation
sialic acid biosynthesis
N-acetyl-D-neuraminic acid
skeletal dysplasia
metabolic disease
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.668640/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.668640/full

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