Matthijs G - Search Results

1

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

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

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

4

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

5

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.

6

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

7

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.

8

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E. Jaeken J, et al. Among authors: matthijs g. Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873. Am J Hum Genet. 1998. PMID: 9585601 Free PMC article. No abstract available.

9

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.

10

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA. Pérez-Dueñas B, et al. Among authors: matthijs g. Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22. Eur J Paediatr Neurol. 2009. PMID: 18948042

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