Associated Papers
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Francisco R et al.
Journal of Clinical Medicine, 2020
32635232 (PubMed )
Supplement: jcm-09-02092-s001.pdf
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R et al.
Journal of Neurology, 2015
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