| 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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| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
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| Haeuptle MA, Hennet T.
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| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
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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 | DPM1, CDG1E
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| A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
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| Dancourt J, Vuillaumier-Barrot S, de Baulny HO, Sfaello I, Barnier A, le Bizec C, Dupre T, Durand G, Seta N, Moore SE.
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| Pediatr Res 59(6):835-9. Epub 2006 Apr 26. 2006
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| 4 | 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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| Leroy JG.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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| 5 | CDG1D, CDG1E, ALG3
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| Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
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| Denecke J, Kranz C, von Kleist-Retzow JCh, Bosse K, Herkenrath P, Debus O, Harms E, Marquardt T.
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| Pediatr Res 58(2):248-53. Epub 2005 Jul 8. 2005
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| 6 | CDG1E
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| Congenital disorder of glycosylation (CDG) type Ie. A new patient.
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| García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P.
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| J Inherit Metab Dis 27(5):591-600.
2004
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