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Year Number of Results
2000 1
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Page 1
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.
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.
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development.
Greig KT, Antonchuk J, Metcalf D, Morgan PO, Krebs DL, Zhang JG, Hacking DF, Bode L, Robb L, Kranz C, de Graaf C, Bahlo M, Nicola NA, Nutt SL, Freeze HH, Alexander WS, Hilton DJ, Kile BT. Greig KT, et al. Mol Cell Biol. 2007 Aug;27(16):5849-59. doi: 10.1128/MCB.00802-07. Epub 2007 Jun 4. Mol Cell Biol. 2007. PMID: 17548465 Free PMC article.
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Ng BG, et al. Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444671 Free PMC article.
31 results