N. Azar

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

G. Matthijs, D. Garozzo, J. Jaeken, 2011, JIMD reports.

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

R. Dodelson de Kremer, C. Asteggiano, Marcela Pereyra, 2018, Pediatric Research.

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

D. Grinberg, S. Balcells, R. Dodelson de Kremer, 2012, The Journal of bone and joint surgery. American volume.

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

G. Uziel, C. Rosano, B. Bembi, 2012, PloS one.