| 1 | ALG3, CDG1D
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| ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
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| Farolfi M, Cechova A, Ondruskova N, Zidkova J, Kousal B, Hansikova H, Honzik T, Liskova P.
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| BMC Ophthalmol. Jun 5;21(1):249. doi: 10.1186/s12886-021-02013-2. 2021
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| 2 | ALG12, ALG3, CDG1A, CDG1B, CDG1D, CDG1G, CDG1J, CDG2B, DPAGT1, MOGS, MPI, PMM2
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| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
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| Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.
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| Am J Hum Genet 98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
2016
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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | ALG3, CDG1D
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| Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
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| Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D.
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| J Inherit Metab Dis Inherit Metab Dis. 2008 Aug 9. [Epub ahead of print]
2008
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| 8 | ALG3,CDG1D
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| CDG-Id in two siblings with partially different phenotypes.
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| Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH.
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| Am J Med Genet A 143(13):1414-20. 2007
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| 9 | 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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| 10 | 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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| 11 | CDG1D, ALG3
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| CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).
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| Schollen E, Grunewald S, Keldermans L, Albrecht B, Korner C, Matthijs G.
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| Eur J Med Genet 48(2):153-8. Epub 2005 Feb 17. 2005
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| 12 | CDG1D
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| Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
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| Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH.
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| J Clin Endocrinol Metab 90(7):4371-5. Epub 2005 Apr 19.
2005
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| 13 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 14 | ALG3, CDG1D
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| Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
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| Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K.
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| EMBO J 18(23):6816-22.
1999
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