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Items: 1 to 20 of 99

1.

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

Sparks SE, Krasnewich DM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 15 [updated 2017 Jan 12].

2.

Congenital Insensitivity to Pain Overview.

Schon K, Parker A, Woods CG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Feb 8.

3.

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG.

Pediatr Res. 2006 Dec;60(6):643-56. Epub 2006 Oct 25. Review.

PMID:
17065563
4.

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Wopereis S, Lefeber DJ, Morava E, Wevers RA.

Clin Chem. 2006 Apr;52(4):574-600. Epub 2006 Feb 23. Review.

5.

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation.

Xia B, Zhang W, Li X, Jiang R, Harper T, Liu R, Cummings RD, He M.

Anal Biochem. 2013 Nov 15;442(2):178-85. doi: 10.1016/j.ab.2013.07.037. Epub 2013 Aug 6.

PMID:
23928051
6.

Urea Cycle Disorders Overview.

Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Apr 29 [updated 2017 Jun 22].

7.

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P.

Med Clin (Barc). 2004 May 15;122(18):707-16. Review. Spanish.

PMID:
15171833
8.

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Wolfe LA, Morava E, He M, Vockley J, Gibson KM.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):322-8. doi: 10.1002/ajmg.c.31345. Epub 2012 Oct 11. Review.

9.

Ethanol-induced impairment in the biosynthesis of N-linked glycosylation.

Welti M, Hülsmeier AJ.

J Cell Biochem. 2014 Apr;115(4):754-62. doi: 10.1002/jcb.24713.

10.

Mass spectrometry for congenital disorders of glycosylation, CDG.

Wada Y.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 21;838(1):3-8. Epub 2006 Mar 6. Review. Erratum in: J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Aug 18;840(2):146.

PMID:
16517226
11.

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
12.

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

Haeuptle MA, Hennet T.

Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Review.

PMID:
19862844
13.

Hereditary Hearing Loss and Deafness Overview.

Shearer AE, Hildebrand MS, Smith RJH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Feb 14 [updated 2017 Jul 27].

14.

Congenital disorders of glycosylation.

Jaeken J, Matthijs G.

Annu Rev Genomics Hum Genet. 2001;2:129-51. Review.

PMID:
11701646
15.

Mitochondrial DNA Maintenance Defects Overview.

El-Hattab AW, Craigen WJ, Wong LJC, Scaglia F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Mar 8.

16.

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Barone R, Sturiale L, Garozzo D.

Mass Spectrom Rev. 2009 May-Jun;28(3):517-42. doi: 10.1002/mas.20201.

PMID:
18844296
17.

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.

Wang Y, Tan J, Sutton-Smith M, Ditto D, Panico M, Campbell RM, Varki NM, Long JM, Jaeken J, Levinson SR, Wynshaw-Boris A, Morris HR, Le D, Dell A, Schachter H, Marth JD.

Glycobiology. 2001 Dec;11(12):1051-70.

PMID:
11805078
18.

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.

Thiel C, Körner C.

Glycoconj J. 2013 Jan;30(1):77-84. doi: 10.1007/s10719-012-9447-5. Epub 2012 Sep 16. Review.

PMID:
22983739
19.

Heritable Thoracic Aortic Disease Overview.

Milewicz DM, Regalado E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Feb 13 [updated 2017 Dec 14].

20.

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

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