Matthijs G - Search Results

1

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

2

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: matthijs g. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.

3

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

4

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. van de Kamp JM, et al. Among authors: matthijs g. J Med Genet. 2007 Apr;44(4):277-80. doi: 10.1136/jmg.2006.044735. Epub 2006 Dec 8. J Med Genet. 2007. PMID: 17158594 Free PMC article.

5

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

6

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G. Schollen E, et al. Among authors: matthijs g. Eur J Hum Genet. 2000 May;8(5):367-71. doi: 10.1038/sj.ejhg.5200470. Eur J Hum Genet. 2000. PMID: 10854097

7

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.

8

Best practice guidelines for molecular analysis in spinal muscular atrophy.

Scheffer H, Cobben JM, Matthijs G, Wirth B. Scheffer H, et al. Among authors: matthijs g. Eur J Hum Genet. 2001 Jul;9(7):484-91. doi: 10.1038/sj.ejhg.5200667. Eur J Hum Genet. 2001. PMID: 11464239 Review.

9

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. Among authors: matthijs g. 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.

10

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. Schollen E, et al. Among authors: matthijs g. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.

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