AAAAAA

   
Results: 1-12 |
Results: 12
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
Authors: Heykants, L Schollen, E Grunewald, S Matthijs, G
Citation: L. Heykants et al., Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2, GENE, 270(1-2), 2001, pp. 53-59
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Authors: Hendriksz, CJ McClean, P Henderson, MJ Keir, DG Worthington, VC Imtiaz, F Schollen, E Matthijs, G Winchester, BG
Citation: Cj. Hendriksz et al., Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose, ARCH DIS CH, 85(4), 2001, pp. 339-340
High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
Authors: Grunewald, S Schollen, E Van Schaftingen, E Jaeken, J Matthijs, G
Citation: S. Grunewald et al., High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency), AM J HU GEN, 68(2), 2001, pp. 347-354
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
Authors: 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
Citation: G. Matthijs et al., Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), HUM MUTAT, 16(5), 2000, pp. 386-394
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Authors: Schollen, E Dorland, L de Koning, TJ Van Diggelen, OP Huijmans, JGM Marquardt, T Babovic-Vuksanovic, D Patterson, M Imtiaz, F Winchester, B Adamowicz, M Pronicka, E Freeze, H Matthijs, G
Citation: E. Schollen et al., Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), HUM MUTAT, 16(3), 2000, pp. 247-252
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)
Authors: Schollen, E Kjaergaard, S Legius, E Schwartz, M Matthijs, G
Citation: E. Schollen et al., Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia), EUR J HUM G, 8(5), 2000, pp. 367-371
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: Aebi, M Helenius, A Schenk, B Barone, R Fiumara, A Berger, EG Hennet, T Imbach, T Stutz, A Bjursell, C Uller, A Wahlstrom, JG Briones, P Cardo, E Clayton, P Winchester, B Cormier-Daire, V de Lonlay, P Cuer, M Dupre, T Seta, N de Koning, T Dorland, L de Loos, F Kupers, L Fabritz, L Hasilik, M Marquardt, T Niehues, R Freeze, H Grunewald, S Heykants, L Jaeken, J Matthijs, G Schollen, E Keir, G Kjaergaard, S Schwartz, M Skovby, F Klein, A Roussel, P Korner, C Lubke, T Thiel, C von Figura, K Koscielak, J Krasnewich, D Lehle, L Peters, V Raab, M Saether, O Schachter, H Van Schaftingen, E Verbert, A Vilaseca, A Wevers, R Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Authors: Imbach, T Grunewald, S Schenk, B Burda, P Schollen, E Wevers, RA Jaeken, J de Klerk, JBC Berger, EG Matthijs, G Aebi, M Hennet, T
Citation: T. Imbach et al., Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic, HUM GENET, 106(5), 2000, pp. 538-545
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
Authors: Imbach, T Schenk, B Schollen, E Burda, P Stutz, A Grunewald, S Bailie, NM King, MD Jaeken, J Matthijs, G Berger, EG Aebi, M Hennet, T
Citation: T. Imbach et al., Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie, J CLIN INV, 105(2), 2000, pp. 233-239
Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)
Authors: Matthijs, G Schollen, E Heykants, L Grunewald, S
Citation: G. Matthijs et al., Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia), MOL GEN MET, 68(2), 1999, pp. 220-226
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
Authors: Pirard, M Achouri, Y Collet, JF Schollen, E Matthijs, G Van Schaftingen, E
Citation: M. Pirard et al., Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes, BIOCHEM J, 339, 1999, pp. 201-207
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
Authors: Pirard, M Matthijs, G Heykants, L Schollen, E Grunewald, S Jaeken, J van Schaftingen, E
Citation: M. Pirard et al., Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2, FEBS LETTER, 452(3), 1999, pp. 319-322
Risultati: 1-12 |