Associated Papers
In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient.
Cubilla MA et al.
Frontiers in Genetics, 2025
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Papazoglu GM et al.
Glycoconjugate Journal, 2021
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Asteggiano CG et al.
Pediatric Research, 2018
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