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Results: 18

References for PMC Articles for PubMed (Select 14973778)

1.

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Jaeken J.

J Inherit Metab Dis. 2003;26(2-3):99-118.

PMID:
12889654
2.

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.

Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH.

Hum Mutat. 2003 Aug;22(2):144-50.

PMID:
12872255
3.
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 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.

7.

Intracellular functions of N-linked glycans.

Helenius A, Aebi M.

Science. 2001 Mar 23;291(5512):2364-9. Review.

PMID:
11269317
8.

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlström JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupré T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al.

Glycoconj J. 1999 Nov;16(11):669-71. No abstract available.

PMID:
11003549
9.
11.

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

de Koning TJ, Toet M, Dorland L, de Vries LS, van den Berg IE, Duran M, Poll-The BT.

J Inherit Metab Dis. 1998 Aug;21(6):681-2. No abstract available.

PMID:
9762608
12.

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T.

J Clin Invest. 1998 Apr 1;101(7):1414-20.

14.

The N-oligosaccharyltransferase complex from yeast.

Knauer R, Lehle L.

FEBS Lett. 1994 May 9;344(1):83-6.

15.

Temperature-sensitive yeast mutants deficient in asparagine-linked glycosylation.

Huffaker TC, Robbins PW.

J Biol Chem. 1982 Mar 25;257(6):3203-10.

16.

Transmembrane movement of oligosaccharide-lipids during glycoprotein synthesis.

Snider MD, Rogers OC.

Cell. 1984 Mar;36(3):753-61.

PMID:
6697396
17.

Solubilization and characterization of the initial enzymes of the dolichol pathway from yeast.

Sharma CB, Lehle L, Tanner W.

Eur J Biochem. 1982 Aug;126(2):319-25.

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