Dupré T - Search Results

1

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T. Svahn J, et al. Among authors: dupre t. Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9. Neuromuscul Disord. 2019. PMID: 31266720

2

[Congenital disorders of glycosylation].

Durand G, Dupré T, Vuillaumier-Barrot S, Seta N. Durand G, et al. Among authors: dupre t. Ann Pharm Fr. 2003;61(5):330-9. Ann Pharm Fr. 2003. PMID: 13130291 Review. French.

3

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: dupre t. J Med Genet. 2000 Aug;37(8):579-80. doi: 10.1136/jmg.37.8.579. J Med Genet. 2000. PMID: 10922383 Free PMC article.

4

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

Dupré T, Barnier A, de Lonlay P, Cormier-Daire V, Durand G, Codogno P, Seta N. Dupré T, et al. Glycobiology. 2000 Dec;10(12):1277-81. doi: 10.1093/glycob/10.12.1277. Glycobiology. 2000. PMID: 11159919

5

[Congenital Disorders of Glycosylation (CDG)].

de Lonlay P, Valayannopoulos V, Dupré T, Vuillaumier-Barrot S, Seta N. de Lonlay P, et al. Among authors: dupre t. Arch Pediatr. 2008 Jun;15(5):602-5. doi: 10.1016/S0929-693X(08)71847-5. Arch Pediatr. 2008. PMID: 18582686 French. No abstract available.

6

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE. Sabry S, et al. Among authors: dupre t. Orphanet J Rare Dis. 2016 Jun 24;11(1):84. doi: 10.1186/s13023-016-0468-1. Orphanet J Rare Dis. 2016. PMID: 27343064 Free PMC article.

7

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.

8

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.

Dupre T, Ogier-Denis E, Moore SE, Cormier-Daire V, Dehoux M, Durand G, Seta N, Codogno P. Dupre T, et al. Biochim Biophys Acta. 1999 Mar 30;1453(3):369-77. doi: 10.1016/s0925-4439(99)00009-5. Biochim Biophys Acta. 1999. PMID: 10101255 Free article.

9

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.

Dupre T, Cuer M, Barrot S, Barnier A, Cormier-Daire V, Munnich A, Durand G, Seta N. Dupre T, et al. Clin Chem. 2001 Jan;47(1):132-4. Clin Chem. 2001. PMID: 11148191 No abstract available.

10

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Footitt EJ, Karimova A, Burch M, Yayeh T, Dupré T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S. Footitt EJ, et al. Among authors: dupre t. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S313-9. doi: 10.1007/s10545-009-1262-1. Epub 2009 Sep 7. J Inherit Metab Dis. 2009. PMID: 19757145 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

91 results

Search Page

Filters