Matthijs G - Search Results

1

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Among authors: matthijs g. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543

2

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T. Imbach T, et al. Among authors: matthijs g. J Clin Invest. 2000 Jan;105(2):233-9. doi: 10.1172/JCI8691. J Clin Invest. 2000. PMID: 10642602 Free PMC article.

3

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T. Imbach T, et al. Among authors: matthijs g. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Hum Genet. 2000. PMID: 10914684

4

Congenital disorders of glycosylation.

Jaeken J, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Annu Rev Genomics Hum Genet. 2001;2:129-51. doi: 10.1146/annurev.genom.2.1.129. Annu Rev Genomics Hum Genet. 2001. PMID: 11701646 Review.

5

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ. Vermeer S, et al. Among authors: matthijs g. J Neurol. 2007 Oct;254(10):1356-8. doi: 10.1007/s00415-007-0546-3. Epub 2007 Aug 15. J Neurol. 2007. PMID: 17694350

6

Congenital disorders of glycosylation (CDG): a rapidly expanding group of neurometabolic disorders.

Grünewald S, Matthijs G. Grünewald S, et al. Among authors: matthijs g. Neuropediatrics. 2000 Apr;31(2):57-9. doi: 10.1055/s-2000-7487. Neuropediatrics. 2000. PMID: 10832577 Review. No abstract available.

7

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M. Schenk B, et al. Among authors: matthijs g. J Clin Invest. 2001 Dec;108(11):1687-95. doi: 10.1172/JCI13419. J Clin Invest. 2001. PMID: 11733564 Free PMC article.

8

On the nomenclature of congenital disorders of glycosylation (CDG).

Jaeken J, Hennet T, Freeze HH, Matthijs G. Jaeken J, et al. Among authors: matthijs g. J Inherit Metab Dis. 2008 Dec;31(6):669-72. doi: 10.1007/s10545-008-0983-x. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949576 Free article.

9

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. Grünewald S, et al. Among authors: matthijs g. Am J Hum Genet. 2001 Feb;68(2):347-54. doi: 10.1086/318199. Epub 2001 Jan 11. Am J Hum Genet. 2001. PMID: 11156536 Free PMC article.

10

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle MA, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C. Jaeken J, et al. Among authors: matthijs g. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S335-8. doi: 10.1007/s10545-009-1297-3. Epub 2009 Oct 24. J Inherit Metab Dis. 2009. PMID: 19856127

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