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
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
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
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
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
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
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
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
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