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Article

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.

Glycoconjugate journal - 1 Apr 2021

Papazoglu Gabriela Magali, Cubilla Marisa, Pereyra Marcela, de Kremer Raquel Dodelson, Pérez Belén, Sturiale Luisa, Asteggiano Carla Gabriela

Abstract excerpt

Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG patients have been reported worldwide. ALG2-CDG is a rare autosomal recessive inherited disorder characterized by neurological involvement, convulsive syndrome of...

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PMID: 33644825
DOI: 10.1007/s10719-021-09976-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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