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Results:
1-13
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Results: 13
Authors:
Willemsen, MAAP
Rotteveel, JJ
de Jong, JGN
Wanders, RJA
IJlst, L
Hoffmann, GF
Mayatepek, E
Citation: Maap. Willemsen et al., Defective metabolism of Leukotriene B-4 in the Sjogren-Larsson Syndrome, J NEUR SCI, 183(1), 2001, pp. 61-67
Authors:
Willemsen, MAAP
Ijlst, L
Steijlen, PM
Rotteveel, JJ
de Jong, JGN
van Domburg, PHMF
Mayatepek, E
Gabreels, FJM
Wanders, RJA
Citation: Maap. Willemsen et al., Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome, BRAIN, 124, 2001, pp. 1426-1437
Authors:
Boss, EA
Moolenaar, SH
Massuger, LFAG
Boonstra, H
Engelke, UFH
de Jong, JGN
Wevers, RA
Citation: Ea. Boss et al., High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid, NMR BIOMED, 13(5), 2000, pp. 297-305
Authors:
Bocca, G
Noordam, C
Wevers, RA
de Jong, JGN
van der Meer, W
de Keijzer, MH
Korver, CRW
Smeitink, JAM
Citation: G. Bocca et al., I-cell disease presenting with severe hypophosphatemia and cardiomyopathy, NEUROPEDIAT, 31(1), 2000, pp. 49-50
Authors:
Willemsen, MAAP
de Jong, JGN
van Domburg, PHMF
Rotteveel, JJ
Wanders, RJA
Mayatepek, E
Citation: Maap. Willemsen et al., Defective inactivation of leukotriene B-4 in patients with Sjogren-Larssonsyndrome, J PEDIAT, 136(2), 2000, pp. 258-260
Authors:
Willemsen, MAAP
de Jong, JGN
van Domburg, PHMF
Rotteveel, JJ
Wanders, RJA
Mayatepek, E
Citation: Maap. Willemsen et al., Sjogren-Larsson syndrome, J PEDIAT, 136(2), 2000, pp. 261-261
Authors:
Drenth, JPH
Cuisset, L
Grateau, G
Vasseur, C
van de Velde-Visser, SD
de Jong, JGN
Beckmann, JS
van der Meer, JWM
Delpech, M
Citation: Jph. Drenth et al., Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome, NAT GENET, 22(2), 1999, pp. 178-181
Authors:
Grunewald, S
Huyben, K
de Jong, JGN
Smeitink, JAM
Rubio, E
Boers, GHJ
Conradt, HS
Wendel, U
Wevers, RA
Citation: S. Grunewald et al., beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain, BBA-MOL BAS, 1455(1), 1999, pp. 54-60
Authors:
Poorthuis, BJHM
Wevers, RA
Kleijer, WJ
Groener, JEM
de Jong, JGN
van Weely, S
Niezen-Koning, KE
van Diggelen, OP
Citation: Bjhm. Poorthuis et al., The frequency of lysosomal storage diseases in The Netherlands, HUM GENET, 105(1-2), 1999, pp. 151-156
Authors:
van Domburg, PHMF
Willemsen, MAAP
Rotteveel, JJ
de Jong, JGN
Thijssen, HOM
Heerschap, A
Cruysberg, JRM
Wanders, RJA
Gabreels, FJM
Steijlen, PM
Citation: Phmf. Van Domburg et al., Sjogren-Larsson syndrome - Clinical and MRI/MRS findings in FALDH-deficient patients, NEUROLOGY, 52(7), 1999, pp. 1345-1352
Authors:
Willemsen, MAAP
Steijlen, PM
de Jong, JGN
Rotteveel, JJ
Ijlst, L
van Werkhoven, MA
Wanders, RJA
Citation: Maap. Willemsen et al., A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjogren-Larsson syndrome, J INVES DER, 112(5), 1999, pp. 827-828
Authors:
Moolenaar, SH
Poggi-Bach, J
Engelke, UFH
Corstiaensen, JMB
Heerschap, A
de Jong, JGN
Binzak, BA
Vockley, J
Wevers, RA
Citation: Sh. Moolenaar et al., Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism:NMR spectroscopy study, CLIN CHEM, 45(4), 1999, pp. 459-464
Authors:
Wevers, RA
Engelke, UFH
Moolenaar, SH
Brautigam, C
de Jong, JGN
Duran, R
de Abreu, RA
van Gennip, AH
Citation: Ra. Wevers et al., H-1-NMR spectroscopy of body fluids: Inborn errors of purine and pyrimidine metabolism, CLIN CHEM, 45(4), 1999, pp. 539-548
Risultati:
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