Associated Papers
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L et al.
Jimd Reports, 2021
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.
Barbosa EA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S et al.
Molecular Syndromology, 2015
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M et al.
Brain : a Journal of Neurology, 2014
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