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SLC35A2-CDG: Novel variant and review

Quelhas, D; Correia, Joana; Jaeken, Jaak; Azevedo, Luísa; Lopes-Marques, Mónica; Bandeira, Anabela; Keldermans, Liesbeth; Matthijs, Gert

SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven ...

Date: 2021   |   Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
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