Matthijs G - Search Results

1

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P. Drouin-Garraud V, et al. Among authors: matthijs g. Am J Med Genet. 2001 Jun 1;101(1):46-9. doi: 10.1002/ajmg.1298. Am J Med Genet. 2001. PMID: 11343337

2

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: matthijs g. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.

3

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.

4

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.

5

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.

Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N. Miossec-Chauvet E, et al. Among authors: matthijs g. Neuropediatrics. 2003 Feb;34(1):1-6. doi: 10.1055/s-2003-38614. Neuropediatrics. 2003. PMID: 12690561

6

Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.

Schollen E, Kjaergaard S, Martinsson T, Vuillaumier-Barrot S, Dunoe M, Keldermans L, Seta N, Matthijs G. Schollen E, et al. Among authors: matthijs g. J Med Genet. 2004 Nov;41(11):877-80. doi: 10.1136/jmg.2004.022350. J Med Genet. 2004. PMID: 15520415 Free PMC article. No abstract available.

7

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

Matthijs G, Schollen E, Heykants L, Grünewald S. Matthijs G, et al. Mol Genet Metab. 1999 Oct;68(2):220-6. doi: 10.1006/mgme.1999.2914. Mol Genet Metab. 1999. PMID: 10527672 Review. No abstract available.

8

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

9

Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Matthijs G, Schollen E, Cassiman JJ, Cormier-Daire V, Jaeken J, van Schaftingen E. Matthijs G, et al. Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104. doi: 10.1038/sj.ejhg.5200161. Eur J Hum Genet. 1998. PMID: 9781052

10

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. Matthijs G, et al. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895

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