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Items: 4

1.

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF.

Mol Cell Proteomics. 2016 Apr;15(4):1435-52. doi: 10.1074/mcp.M115.054122. Epub 2016 Jan 19.

2.

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

Choi R, Woo HI, Choe BH, Park S, Yoon Y, Ki CS, Lee SY, Kim JW, Song J, Kim DS, Kwon S, Park HD.

Clin Chim Acta. 2015 Apr 15;444:50-3. doi: 10.1016/j.cca.2015.02.008. Epub 2015 Feb 11.

PMID:
25681648
3.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D.

Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4.

4.

N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.

He P, Srikrishna G, Freeze HH.

Glycobiology. 2014 Apr;24(4):392-8. doi: 10.1093/glycob/cwu006. Epub 2014 Jan 28.

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