Similar articles for PMID: 20301507

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1

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.

Sparks SE, Krasnewich DM. Sparks SE, et al. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301507 Free Books & Documents. Review.

2

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Haeuptle MA, Hennet T. Haeuptle MA, et al. Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Hum Mutat. 2009. PMID: 19862844 Review.

3

ALG1-CDG: a new case with early fatal outcome.

Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261

4

Overexpression of GDP-mannose pyrophosphorylase in Saccharomyces cerevisiae corrects defects in dolichol-linked saccharide formation and protein glycosylation.

Janik A, Sosnowska M, Kruszewska J, Krotkiewski H, Lehle L, Palamarczyk G. Janik A, et al. Biochim Biophys Acta. 2003 Apr 7;1621(1):22-30. doi: 10.1016/s0304-4165(03)00026-6. Biochim Biophys Acta. 2003. PMID: 12667607

5

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Thiel C, Schwarz M, Hasilik M, Grieben U, Hanefeld F, Lehle L, von Figura K, Körner C. Thiel C, et al. Biochem J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/BJ20020794. Biochem J. 2002. PMID: 12093361 Free PMC article.

6

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. J Biol Chem. 2002 Jul 12;277(28):25815-22. doi: 10.1074/jbc.M203285200. Epub 2002 Apr 30. J Biol Chem. 2002. PMID: 11983712 Free article.

7

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Yang AC, et al. Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28. Mol Genet Metab. 2013. PMID: 23856421 Free PMC article.

8

Mannosylphosphoryldolichol-mediated reactions in oligosaccharide-P-P-dolichol biosynthesis. Recognition of the saturated alpha-isoprene unit of the mannosyl donor by pig brain mannosyltransferases.

Rush JS, Shelling JG, Zingg NS, Ray PH, Waechter CJ. Rush JS, et al. J Biol Chem. 1993 Jun 25;268(18):13110-7. J Biol Chem. 1993. PMID: 8514752 Free article.

9

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J. Barone R, et al. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.

10

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.

Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C. Thiel C, et al. J Biol Chem. 2003 Jun 20;278(25):22498-505. doi: 10.1074/jbc.M302850200. Epub 2003 Apr 8. J Biol Chem. 2003. PMID: 12684507 Free article.

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