Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation
- PMID: 26577042
- PMCID: PMC5070899
- DOI: 10.1038/ejhg.2015.248
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation
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- Jaeken J, Pirard M, Adamowicz M, Pronicka E, Van Schaftingen E: Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 1996; 40: 764–766. - PubMed
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- Sturiale L, Barone R, Fiumara A et al: Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005; 15: 1268–1276. - PubMed
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