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Article

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2018

Yates T Michael, Suri Mohnish, Desurkar Archana, Lesca Gaetan, Wallgren-Pettersson Carina, Hammer Trine B, Raghavan Ashok, Poulat Anne-Lise, Møller Rikke S, Thuresson Ann-Charlotte, Balasubramanian Meena

Abstract excerpt

We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has...

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Identifiers

PMID: 30194038
DOI: 10.1016/j.ejpn.2018.08.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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