AAAAAA
Results:
1-11
|
Results: 11
Authors:
Spaapen, LJM
Bakker, JA
Velter, C
Loots, W
Rubio-Gonzalbo, ME
Forget, PP
Dorland, L
De Koning, TJ
Poll-The, BT
Van Amstel, HKP
Bekhof, J
Blau, N
Duran, M
Citation: Ljm. Spaapen et al., Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates, J INH MET D, 24(3), 2001, pp. 352-358
Authors:
Frenkel, J
Willemsen, MAAP
Weemaes, CMR
Dorland, L
Mayatepek, E
Citation: J. Frenkel et al., Increased urinary leukotriene E-4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome, ARCH DIS CH, 85(2), 2001, pp. 158-159
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:
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:
de Koning, TJ
Nikkels, PGJ
Dorland, L
Bekhof, J
De Schrijver, JEAR
van Hattum, J
van Diggelen, OP
Duran, M
Barger, R
Poll-The, BT
Citation: Tj. De Koning et al., Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency, VIRCHOWS AR, 437(1), 2000, pp. 101-105
Authors:
de Koning, TJ
Duran, M
Dorland, L
Jakobs, C
Wevers, RA
Berger, R
Poll-The, BT
Citation: Tj. De Koning et al., Neurotransmitters in 8-phosphoglycerate dehydrogenase deficiency, EUR J PED, 159(12), 2000, pp. 939-940
Authors:
Sjarif, DR
Dorland, L
Sperl, W
de Koning, TJ
Beemer, FA
Poll-The, BT
Duran, M
Citation: Dr. Sjarif et al., Hyperketonaemia in glycerol kinase deficiency, J INH MET D, 23(7), 2000, pp. 760-764
Authors:
Poll-The, BT
Frenkel, J
Houten, SM
Kuis, W
Duran, M
De Koning, TJ
Dorland, L
De Barse, MMJ
Romeijn, GJ
Wanders, RJA
Waterham, HR
Citation: Bt. Poll-the et al., Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome, J INH MET D, 23(4), 2000, pp. 363-366
Authors:
Roschinger, W
Muntau, AC
Duran, M
Dorland, L
IJlst, L
Wanders, RJA
Roscher, AA
Citation: W. Roschinger et al., Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle, CLIN CHIM A, 298(1-2), 2000, pp. 55-68
Authors:
Houten, SM
Kuis, W
Duran, M
de Koning, TJ
van Royen-Kerkhof, A
Romeijn, GJ
Frenkel, J
Dorland, L
de Barse, MMJ
Huijbers, WAR
Rijkers, GT
Waterham, HR
Wanders, RJA
Poll-The, BT
Citation: Sm. Houten et al., Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome, NAT GENET, 22(2), 1999, pp. 175-177
Authors:
de Koning, TJ
Dorland, L
Henegouwen, GPV
Citation: Tj. De Koning et al., Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy, J HEPATOL, 31(3), 1999, pp. 557-560
Risultati:
1-11
|