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, Sandrine, Barnier, Anne, Cuer, Maryvonne, Durand, Geneviève, Grandchamp, Bernard, Seta, Nathalie
Published in Human mutation (01.12.1999)
Published in Human mutation (01.12.1999)
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Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
de Lonlay, Pascole, Cuer, Maryvonne, Vuillaumier-Barrot, Sandrine, Beaune, Gaspard, Castelnau, Pierre, Kretz, Michel, Durand, Geneviève, Saudubray, Jean-Marie, Seta, Nathalie
Published in The Journal of pediatrics (01.09.1999)
Published in The Journal of pediatrics (01.09.1999)
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Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern
DUPRE, Thierry, CUER, Maryvonne, BARROT, Sandrine, BARNIER, Anne, CORMIER-DAIRE, Valérie, MUNNICH, Arnold, DURAND, Geneviève, SETA, Nathalie
Published in Clinical chemistry (Baltimore, Md.) (2001)
Published in Clinical chemistry (Baltimore, Md.) (2001)
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Fluorimetric Measurement of Plasma α-l-Fucosidase Activity with a Centrifugal Analyzer: Reference Values in a Healthy French Adult Population
Cuer, Maryvonne, Barnier, Anne, de La Salmoniere, Pauline, Durand, Geneviève, Seta, Nathalie
Published in Clinical chemistry (Baltimore, Md.) (01.04.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2000)
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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
VUILLAUMIER-BARROT, S, HETET, G, BARNIER, A, DUPRE, T, CUER, M, DE LONLAY, P, CORMIER-DAIRE, V, DURAND, G, GRANDCHAMP, B, SETA, N
Published in Journal of medical genetics (01.08.2000)
Published in Journal of medical genetics (01.08.2000)
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Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients
Vuillaumier-Barrot, Sandrine, Hetet, Gilles, Barnier, Anne, Dupré, Thierry, Cuer, Maryvonne, de Lonlay, Pascale, Cormier-Daire, Valérie, Durand, Geneviève, Grandchamp, Bernard, Seta, Nathalie
Published in Journal of medical genetics (01.08.2000)
Published in Journal of medical genetics (01.08.2000)
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Sequential study of serum glycoprotein fucosylation in acute hepatitis
Seta, Nathalie, Gayno, Sophie, Jezequel-Cuer, Maryvonne, Toueg, Marie-Laure, Erlinger, Serge, Durand, Geneviève
Published in Journal of hepatology (01.02.1997)
Published in Journal of hepatology (01.02.1997)
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Cell surface carbohydrates of rat alveolar type II cells in primary culture
Crestani, B, Dehoux, M, Seta, N, Cuer, M, Aubier, M
Published in American journal of respiratory cell and molecular biology (01.02.1993)
Published in American journal of respiratory cell and molecular biology (01.02.1993)
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