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Review
. 2016 Jul;24(7).
doi: 10.1038/ejhg.2015.248. Epub 2015 Nov 18.

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation

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Review

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation

Jaak Jaeken et al. Eur J Hum Genet. 2016 Jul.
No abstract available

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References

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    1. 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
    1. 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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