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Results: 1-9 |
Results: 9
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
Authors: Cuisset, L Drenth, JP Simon, A Vincent, MF Visser, SV van der Meer, JWM Grateau, G Delpech, M
Citation: L. Cuisset et al., Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 260-266
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool
Authors: Simon, A Cuisset, L Vincent, MF van der Velde-Visser, SD Delpech, M van der Meer, JWM Drenth, JPH
Citation: A. Simon et al., Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool, ANN INT MED, 135(5), 2001, pp. 338-343
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
Authors: Race, V Marie, S Vincent, MF Van den Berghe, G
Citation: V. Race et al., Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency, HUM MOL GEN, 9(14), 2000, pp. 2159-2165
Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemia
Authors: Marsin, AS Bertrand, L Rider, MH Deprez, J Beauloye, C Vincent, MF Van den Berghe, G Carling, D Hue, L
Citation: As. Marsin et al., Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemia, CURR BIOL, 10(20), 2000, pp. 1247-1255
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly
Authors: Nassogne, MC Henrot, B Aubert, G Bonnier, C Marie, S Saint-Martin, C Van den Berghe, G Sebire, G Vincent, MF
Citation: Mc. Nassogne et al., Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly, BRAIN DEVEL, 22(6), 2000, pp. 383-386
Prenatal diagnosis in adenylosuccinate lyase deficiency
Authors: Marie, S Flipsen, JWAM Duran, M Poll-The, BT Beemer, FA Bosschaart, AN Vincent, MF Van den Berghe, G
Citation: S. Marie et al., Prenatal diagnosis in adenylosuccinate lyase deficiency, PRENAT DIAG, 20(1), 2000, pp. 33-36
Identification of undescribed medium-chain acylcarnitines present in urineof patients with propionic and methylmalonic acidemias
Authors: Libert, R Van Hoof, F Thillaye, M Vincent, MF Nassogne, MC de Hoffmann, E Schanck, A
Citation: R. Libert et al., Identification of undescribed medium-chain acylcarnitines present in urineof patients with propionic and methylmalonic acidemias, CLIN CHIM A, 295(1-2), 2000, pp. 87-96
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
Authors: Marie, S Cuppens, H Heuterspreute, M Jaspers, M Tola, EZ Gu, XX Legius, E Vincent, MF Jaeken, J Cassiman, JJ Van den Berghe, G
Citation: S. Marie et al., Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence, HUM MUTAT, 13(3), 1999, pp. 197-202
Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency
Authors: Libert, R Van Hoof, F Thillaye, M Vincent, MF Nassogne, MC Stroobant, V de Hoffmann, E Schanck, A
Citation: R. Libert et al., Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(1), 1999, pp. 9-18
Risultati: 1-9 |