Associated Papers
Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1].
Liu Y et al.
Molecular Genetics and Metabolism, 2025
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC et al.
Human Mutation, 2006
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