| 1 | ALG1, ALG3, ALG6, CDG1C, CDG1D, CDG1K, CDG1U, DPM2
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| Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
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| Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.
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| JIMD Rep IMD Rep. 2015 Oct 10. [Epub ahead of print]
2015
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| 2 | ALG1, ALG3, ALG6, ALG8, ALG9, B4GALT1, CDG1C, CDG1D, CDG1H, CDG1K, CDG1L, CDG1U, CDG2E, CDG2F, CDG2G, CDG2H, CDG2I, CDG2M, COG1, COG5, COG7, COG8, DPM2, SLC35A2
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| Congenital disorders of glycosylation with emphasis on cerebellar involvement.
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| Barone R, Fiumara A, Jaeken J.
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| Semin Neurol 34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review. 2014
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| 3 | 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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| 4 | ALG6, CDG1C
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| Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
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| Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH.
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| Biochem Biophys Res Commun 339(3):755-60. 2006
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| 5 | 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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| 6 | ALG6, CDG1C
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| Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.
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| Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA.
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| Am J Med Genet A 137(1):22-6. 2005
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| 7 | ALG6, CDG1C
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| Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
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| Westphal V, Xiao M, Kwok PY, Freeze HH.
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| Hum Mutat 22(5):420-1. 2003
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| 8 | ALG6, CDG1C
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| Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
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| Westphal V, Schottstadt C, Marquardt T, Freeze HH.
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| Mol Genet Metab 70(3):219-23. 2000
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| 9 | ALG5, ALG6, CDG1C
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| A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
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| Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T.
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| Proc Natl Acad Sci U S A 96(12):6982-7. 1999
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| 10 | ALG6, CDG1C
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| A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
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| Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M.
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| J Clin Invest 102(4):647-52. 1998
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