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Items: 10

1.

Congenital protein hypoglycosylation diseases.

Sparks SE.

Appl Clin Genet. 2012 Jul 5;5:43-54. doi: 10.2147/TACG.S18673. Print 2012.

2.

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.

JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.

3.

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J.

Orphanet J Rare Dis. 2010 Apr 16;5:7. doi: 10.1186/1750-1172-5-7.

4.

RFT1 deficiency in three novel CDG patients.

Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T.

Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085.

5.

Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T.

Am J Hum Genet. 2008 Mar;82(3):600-6. doi: 10.1016/j.ajhg.2007.12.021. Epub 2008 Feb 28.

6.

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA.

J Med Genet. 2007 Apr;44(4):277-80. Epub 2006 Dec 8.

7.

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.

Mills P, Mills K, Clayton P, Johnson A, Whitehouse D, Winchester B.

Biochem J. 2001 Oct 15;359(Pt 2):249-54.

8.
9.

Detection of inborn errors of metabolism in the newborn.

Chakrapani A, Cleary MA, Wraith JE.

Arch Dis Child Fetal Neonatal Ed. 2001 May;84(3):F205-10. Review. No abstract available.

10.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G.

Am J Hum Genet. 2001 Feb;68(2):347-54. Epub 2001 Jan 11.

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