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Items: 1 to 20 of 213

1.

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Schwarz M, Thiel C, Lübbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Körner C.

Am J Hum Genet. 2004 Mar;74(3):472-81. Epub 2004 Feb 16.

2.

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.

Biochem J. 2002 Oct 1;367(Pt 1):195-201.

3.

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Körner C.

Hum Mol Genet. 2010 Apr 15;19(8):1413-24. doi: 10.1093/hmg/ddq016. Epub 2010 Jan 15.

PMID:
20080937
4.

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.

J Biol Chem. 2003 Jun 20;278(25):22498-505. Epub 2003 Apr 8.

5.

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Grubenmann CE, Frank CG, Hülsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T.

Hum Mol Genet. 2004 Mar 1;13(5):535-42. Epub 2004 Jan 6.

PMID:
14709599
6.

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.

Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21.

PMID:
24157261
7.

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K.

EMBO J. 1999 Dec 1;18(23):6816-22.

8.

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T.

Am J Hum Genet. 2004 Mar;74(3):545-51. Epub 2004 Feb 17.

9.

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.

J Biol Chem. 2002 Jul 12;277(28):25815-22. Epub 2002 Apr 30.

10.

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE.

J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. Erratum in: J Med Genet. 2015 Mar;52(3):216. Yayé, H S [corrected to Sadou Yayé, H].

11.

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet T.

Hum Mol Genet. 2002 Sep 15;11(19):2331-9.

PMID:
12217961
12.

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T.

J Clin Invest. 2000 Jan;105(2):233-9.

15.

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Körner C.

Hum Mutat. 2012 Mar;33(3):485-7. doi: 10.1002/humu.22019. Epub 2012 Jan 31.

PMID:
22213132
16.

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T.

Am J Hum Genet. 2004 Jul;75(1):146-50. Epub 2004 May 17.

17.

Characterization of an alg2 mutant of the zygomycete fungus Rhizomucor pusillus.

Takeuchi K, Yamazaki H, Shiraishi N, Ohnishi Y, Nishikawa Y, Horinouchi S.

Glycobiology. 1999 Dec;9(12):1287-93.

PMID:
10561453
19.
20.

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).

Vleugels W, Duvet S, Peanne R, Mir AM, Cacan R, Michalski JC, Matthijs G, Foulquier F.

Biochimie. 2011 May;93(5):823-33. doi: 10.1016/j.biochi.2011.01.016. Epub 2011 Feb 16.

PMID:
21315133

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