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Page 1
Glycosylation diseases: quo vadis?
Schachter H, Freeze HH. Schachter H, et al. Biochim Biophys Acta. 2009 Sep;1792(9):925-30. doi: 10.1016/j.bbadis.2008.11.002. Epub 2008 Nov 13. Biochim Biophys Acta. 2009. PMID: 19061954 Free PMC article. Review.
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.
31 results