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Results: 1 to 20 of 32

Related Articles by Review for PubMed (Select 15235028)

1.

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G.

J Med Genet. 2004 Jul;41(7):550-6. No abstract available.

2.

The prenatal diagnosis of congenital disorders of glycosylation (CDG).

Matthijs G, Schollen E, Van Schaftingen E.

Prenat Diagn. 2004 Feb;24(2):114-6. Review. No abstract available.

PMID:
14974118
3.

A new case of ALG8 deficiency (CDG Ih).

Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. Review.

PMID:
19688606
4.

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
5.

[Molecular diagnosis of congenital disorders of glycosylation].

Vuillaumier-Barrot S.

Ann Biol Clin (Paris). 2005 Mar-Apr;63(2):135-43. Review. French.

PMID:
15771971
6.

[Congenital disorders of glycosylation].

Durand G, Dupré T, Vuillaumier-Barrot S, Seta N.

Ann Pharm Fr. 2003;61(5):330-9. Review. French.

PMID:
13130291
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.

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.

Babovic-Vuksanovic D, O'Brien JF.

Mol Diagn Ther. 2007;11(5):303-11. Review.

PMID:
17963418
9.

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Grünewald S.

Biochim Biophys Acta. 2009 Sep;1792(9):827-34. doi: 10.1016/j.bbadis.2009.01.003. Epub 2009 Jan 14. Review.

10.

Congenital disorders of glycosylation: a booming chapter of pediatrics.

Jaeken J, Carchon H.

Curr Opin Pediatr. 2004 Aug;16(4):434-9. Review.

PMID:
15273506
11.

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
12.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G.

Hum Mutat. 2000 Sep;16(3):247-52. Review.

PMID:
10980531
13.

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E.

Pediatr Dermatol. 2014 Jan-Feb;31(1):e1-5. Review.

PMID:
24555185
14.

Altered glycan structures: the molecular basis of congenital disorders of glycosylation.

Freeze HH, Aebi M.

Curr Opin Struct Biol. 2005 Oct;15(5):490-8. Review.

PMID:
16154350
15.

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Jaeken J.

J Inherit Metab Dis. 2011 Aug;34(4):853-8. doi: 10.1007/s10545-011-9299-3. Epub 2011 Mar 8. Review.

PMID:
21384229
16.

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Matthijs G, Rymen D, Millón MB, Souche E, Race V.

Glycoconj J. 2013 Jan;30(1):67-76. doi: 10.1007/s10719-012-9445-7. Epub 2012 Sep 15. Review.

PMID:
22983704
17.

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
18.

Screening and diagnosis of congenital disorders of glycosylation.

Marklová E, Albahri Z.

Clin Chim Acta. 2007 Oct;385(1-2):6-20. Epub 2007 Jul 13. Review.

PMID:
17716641
19.

What's new in congenital disorders of glycosylation?

Jaeken J, Carchon H.

Eur J Paediatr Neurol. 2000;4(4):163-7. Review. No abstract available.

PMID:
11008258
20.

Congenital disorders of glycosylation (CDG): update and new developments.

Jaeken J.

J Inherit Metab Dis. 2004;27(3):423-6. Review.

PMID:
15272470
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