| 1 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
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| 2 | CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1J, CDG1K, CDG2A, CDG2B, CDG2C, CDG2E, CDG2G, CDG2H
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| The skeletal manifestations of the congenital disorders of glycosylation.
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| Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R.
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| Clin Genet 73(6):507-15. Epub 2008 May 6. Review. 2008
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| 3 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
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| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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| 4 | CDG1F, MPDU1
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| Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
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| Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH.
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| Glycobiology 15(11):1084-93. Epub 2005 Aug 3.
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| 5 | MPDU1, CDG1F
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| A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
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| Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T.
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| J Clin Invest 108(11):1613-9. 2001
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| 6 | MPDU1, CDG1F
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| MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
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| Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M.
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| J Clin Invest 108(11):1687-95. Erratum in: J Clin Invest. 2003 Mar;111(6):925. 2001
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