AAAAAA
Results: 1-25/39
Authors:
Zdebska, E
Musielak, M
Jaeken, J
Koscielak, J
Citation: E. Zdebska et al., Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated, PROTEOMICS, 1(2), 2001, pp. 269-274
Authors:
Jaeken, J
Matthijs, G
Citation: J. Jaeken et G. Matthijs, Congenital disorders of glycosylation, ANN REV GEN, 2, 2001, pp. 129-151
Authors:
Freson, K
Hoylaerts, MF
Jaeken, J
Eyssen, M
Arnout, J
Vermylen, J
Van Geet, C
Citation: K. Freson et al., Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding, THROMB HAEM, 86(3), 2001, pp. 733-738
Authors:
Hausler, MG
Jaeken, J
Monch, E
Ramaekers, VT
Citation: Mg. Hausler et al., Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: Report on two siblings, NEUROPEDIAT, 32(4), 2001, pp. 191-195
Authors:
Van Geet, C
Jaeken, J
Freson, K
Lenaerts, T
Arnout, J
Vermylen, J
Hoylaerts, MF
Citation: C. Van Geet et al., Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications, J INH MET D, 24(4), 2001, pp. 477-492
Authors:
de Lonlay, P
Seta, N
Barrot, S
Chabrol, B
Drouin, V
Gabriel, BM
Journel, H
Kretz, M
Laurent, J
Le Merrer, M
Leroy, A
Pedespan, D
Sarda, P
Villeneuve, N
Schmitz, J
van Schaftingen, E
Matthijs, G
Jaeken, J
Korner, C
Munnich, A
Saudubray, JM
Cormier-Daire, V
Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19
Authors:
Schenk, B
Imbach, T
Frank, CG
Grubenmann, CE
Raymond, GV
Hurvitz, H
Raas-Rotschild, A
Luder, AS
Jaeken, J
Berger, EG
Matthijs, G
Hennet, T
Aebi, M
Citation: B. Schenk et al., MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If, J CLIN INV, 108(11), 2001, pp. 1687-1695
Authors:
Van Dijk, W
Koeleman, C
Hof, BV
Poland, D
Jakobs, C
Jaeken, J
Citation: W. Van Dijk et al., Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia), FEBS LETTER, 494(3), 2001, pp. 232-235
Authors:
Carchon, HA
Jaeken, J
Citation: Ha. Carchon et J. Jaeken, Determination of D-mannose in serum by capillary electrophoresis, CLIN CHEM, 47(7), 2001, pp. 1319-1321
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:
Blau, N
Scherer-Oppliger, T
Baumer, A
Riegel, M
Matasovic, A
Schinzel, A
Jaeken, J
Thony, B
Citation: N. Blau et al., Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS, HUM MUTAT, 16(1), 2000, pp. 54-60
Authors:
Purroy, J
Bisceglia, L
Jaeken, J
Gasparini, P
Palacin, M
Nunes, V
Citation: J. Purroy et al., Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR, HUM MUTAT, 15(4), 2000, pp. 373-379
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:
Grunewald, S
Imbach, T
Huijben, K
Rubio-Gozalbo, ME
Verrips, A
de Klerk, JBC
Stroink, H
Andel, JFD
Van Hove, JLK
Wendel, U
Matthijs, G
Hennet, T
Jaeken, J
Wevers, RA
Citation: S. Grunewald et al., Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis, ANN NEUROL, 47(6), 2000, pp. 776-781
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
Authors:
Corbeel, L
Van Lierde, S
Jaeken, J
Citation: L. Corbeel et al., Long-term follow-up of portacaval shunt in glycogen storage disease type 1B, EUR J PED, 159(4), 2000, pp. 268-272
Authors:
de Koning, TJ
Jaeken, J
Pineda, M
Van Maldergem, L
Poll-The, BT
van der Knaap, MS
Citation: Tj. De Koning et al., Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 287-292
Authors:
Abeling, NGGM
Brautigam, C
Hoffmann, GF
Barth, PG
Wevers, RA
Jaeken, J
Fiumara, A
Knust, A
van Gennip, AH
Citation: Nggm. Abeling et al., Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency, J INH MET D, 23(4), 2000, pp. 325-328
Authors:
Fletcher, JM
Matthijs, G
Jaeken, J
Van Schaftingen, E
Nelson, PV
Citation: Jm. Fletcher et al., Carbohydrate-deficient glycoprotein syndrome: Beyond the screen, J INH MET D, 23(4), 2000, pp. 396-398
Authors:
Knopf, C
Rod, R
Jaeken, J
Berant, M
Van Schaftingen, E
Fryns, JP
Brill-Zamir, R
Gershoni-Baruch, R
Lischinsky, S
Mandel, H
Citation: C. Knopf et al., Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism, J INH MET D, 23(4), 2000, pp. 399-403
Authors:
Van Hove, JLK
Kishnani, PS
Demaerel, P
Kahler, SG
Miller, C
Jaeken, J
Rutledge, SL
Citation: Jlk. Van Hove et al., Acute hydrocephalus in nonketotic hyperglycinemia, NEUROLOGY, 54(3), 2000, pp. 754-756
Authors:
van Ommen, CH
Peters, M
Barth, PG
Vreken, P
Wanders, RJA
Jaeken, J
Citation: Ch. Van Ommen et al., Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances, J PEDIAT, 136(3), 2000, pp. 400-403
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:
Pineda, M
Vilaseca, MA
Artuch, R
Santos, S
Gonzalez, MMG
Sau, I
Aracil, A
Van Schaftingen, E
Jaeken, J
Citation: M. Pineda et al., 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome, DEVELOP MED, 42(9), 2000, pp. 629-633
Authors:
Klomp, LWJ
de Koning, TJ
Malingre, HEM
van Beurden, EACM
Brink, M
Opdam, FL
Duran, M
Jaeken, J
Pineda, M
van Maldergem, L
Poll-The, BT
van den Berg, IET
Berger, R
Citation: Lwj. Klomp et al., Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis, AM J HU GEN, 67(6), 2000, pp. 1389-1399