Similar articles for PMID: 15235028

Year	Number of Results
1970	1
1974	2
1995	1
1996	1
1999	1
2000	6
2001	3
2002	5
2003	4
2004	9
2005	6
2006	13
2007	10
2008	3
2009	8
2010	3
2011	1
2012	5
2013	2
2014	6
2015	4
2016	1
2017	2
2018	4
2019	1
2020	1
2024	0

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. Schollen E, et al. J Med Genet. 2004 Jul;41(7):550-6. doi: 10.1136/jmg.2003.016923. J Med Genet. 2004. PMID: 15235028 Free PMC article. No abstract available.

2

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853

3

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T. Stölting T, et al. Mol Genet Metab. 2009 Nov;98(3):305-9. doi: 10.1016/j.ymgme.2009.06.010. Epub 2009 Jun 24. Mol Genet Metab. 2009. PMID: 19648040

4

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

Matthijs G, Schollen E, Van Schaftingen E. Matthijs G, et al. Prenat Diagn. 2004 Feb;24(2):114-6. doi: 10.1002/pd.815. Prenat Diagn. 2004. PMID: 14974118 Review. No abstract available.

5

A new case of ALG8 deficiency (CDG Ih).

Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.

6

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.

Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. J Biol Chem. 2003 Mar 14;278(11):9962-71. doi: 10.1074/jbc.M211950200. Epub 2002 Dec 11. J Biol Chem. 2003. PMID: 12480927 Free article.

7

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.

Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH. Eklund EA, et al. Biochem Biophys Res Commun. 2006 Jan 20;339(3):755-60. doi: 10.1016/j.bbrc.2005.11.073. Biochem Biophys Res Commun. 2006. PMID: 16321363

8

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.

Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I. Vuillaumier-Barrot S, et al. Pediatr Res. 2019 Feb;85(3):384-389. doi: 10.1038/s41390-018-0231-5. Epub 2018 Nov 12. Pediatr Res. 2019. PMID: 30420707

9

ALG8-CDG: novel patients and review of the literature.

Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.

10

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.

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