Citations for
1ALG1, ALG3, ALG6, CDG1C, CDG1D, CDG1K, CDG1U, DPM2
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.
JIMD Rep IMD Rep. 2015 Oct 10. [Epub ahead of print] 2015
2ALG1, ALG3, ALG6, ALG8, ALG9, B4GALT1, CDG1C, CDG1D, CDG1H, CDG1K, CDG1L, CDG1U, CDG2E, CDG2F, CDG2G, CDG2H, CDG2I, CDG2M, COG1, COG5, COG7, COG8, DPM2, SLC35A2
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Barone R, Fiumara A, Jaeken J.
Semin Neurol 34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review. 2014
3ALG1, 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
Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA, Hennet T.
Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
4ALG6, CDG1C
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH.
Biochem Biophys Res Commun 339(3):755-60. 2006
5ALG1, 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
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
Leroy JG.
Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
6ALG6, CDG1C
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.
Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA.
Am J Med Genet A 137(1):22-6. 2005
7ALG6, CDG1C
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
Westphal V, Xiao M, Kwok PY, Freeze HH.
Hum Mutat 22(5):420-1. 2003
8ALG6, CDG1C
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
Westphal V, Schottstadt C, Marquardt T, Freeze HH.
Mol Genet Metab 70(3):219-23. 2000
9ALG5, ALG6, CDG1C
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T.
Proc Natl Acad Sci U S A 96(12):6982-7. 1999
10ALG6, CDG1C
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M.
J Clin Invest 102(4):647-52. 1998