Authors:
Van Buggenhout, GJCM
Trijbels, JMF
Wevers, R
Trommelen, JCM
Hamel, BCJ
Brunner, HG
Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype, GEN COUNSEL, 12(1), 2001, pp. 1-21
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:
Huemer, M
Huber, WD
Schima, W
Moeslinger, D
Holzbach, U
Wevers, R
Wank, H
Stoeckler-Ipsiroglu, S
Citation: M. Huemer et al., Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix, J PEDIAT, 136(5), 2000, pp. 691-695