Seta N - Search Results

1

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. Among authors: seta n. 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.

2

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome.

Seta N, Barnier A, Hochedez F, Besnard MA, Durand G. Seta N, et al. Clin Chim Acta. 1996 Oct 29;254(2):131-40. doi: 10.1016/0009-8981(96)06379-6. Clin Chim Acta. 1996. PMID: 8896901

3

[Carbohydrate-deficient blood glycoprotein syndrome].

de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: seta n. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. French.

4

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, Durand G, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: seta n. J Pediatr. 1999 Sep;135(3):379-83. doi: 10.1016/s0022-3476(99)70139-3. J Pediatr. 1999. PMID: 10484808

5

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: seta n. Hum Mutat. 1999 Dec;14(6):543-4. doi: 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S. Hum Mutat. 1999. PMID: 10571956

6

Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring.

Durand G, Seta N. Durand G, et al. Among authors: seta n. Clin Chem. 2000 Jun;46(6 Pt 1):795-805. Clin Chem. 2000. PMID: 10839767 Review.

7

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: seta n. 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.

8

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. Among authors: seta n. Clin Chem. 2001 Jan;47(1):132-4. Clin Chem. 2001. PMID: 11148191 No abstract available.

9

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. Among authors: seta n. Glycobiology. 2000 Dec;10(12):1277-81. doi: 10.1093/glycob/10.12.1277. Glycobiology. 2000. PMID: 11159919

10

[Congenital disorders of glycosylation].

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

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