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Results: 1-25 | 26-26
Results: 1-25/26
Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency
Authors: Niers, LEM Smeitink, JAM Trijbels, JMF Sengers, RCA Janssen, AJM van den Heuvel, LP
Citation: Lem. Niers et al., Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency, PRENAT DIAG, 21(10), 2001, pp. 871-880
Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation
Authors: Okhuijsen-Kroes, EJ Trijbels, JMF Sengers, RCA Mariman, E van den Heuvel, LP Wendel, U Koch, G Smeitink, JAM
Citation: Ej. Okhuijsen-kroes et al., Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation, NEUROPEDIAT, 32(4), 2001, pp. 183-190
Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk
Authors: Van den Hout, JMP Reuser, AJJ de Klerk, JBC Arts, WF Smeitink, JAM Van der Ploeg, AT
Citation: Jmp. Van Den Hout et al., Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk, J INH MET D, 24(2), 2001, pp. 266-274
Peripheral blood lymphocyte appearance in a case of I cell disease
Authors: van der Meer, W Jakobs, BS Bocca, G Smeitink, JAM Steckhoven, JHS de Keijzer, MH
Citation: W. Van Der Meer et al., Peripheral blood lymphocyte appearance in a case of I cell disease, J CLIN PATH, 54(9), 2001, pp. 724-726
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome
Authors: Jira, PE Wanders, RJA Smeitink, JAM De Jong, J Wevers, RA Oostheim, W Tuerlings, JHAM Hennekam, RCM Sengers, RCA Waterham, HR
Citation: Pe. Jira et al., Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome, ANN HUM GEN, 65, 2001, pp. 229-236
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations
Authors: Rubio-Gozalbo, ME Dijkman, KP van den Heuvel, LP Sengers, RCA Wendel, U Smeitink, JAM
Citation: Me. Rubio-gozalbo et al., Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations, HUM MUTAT, 15(6), 2000, pp. 522-532
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Authors: Loeffen, JLCM Smeitink, JAM Trijbels, JMF Janssen, AJM Triepels, RH Sengers, RCA van den Heuvel, LP
Citation: Jlcm. Loeffen et al., Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects, HUM MUTAT, 15(2), 2000, pp. 123-134
Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy
Authors: Verrips, A Willemsen, MAAP Rubio-Gozalbo, E De Jong, J Smeitink, JAM
Citation: A. Verrips et al., Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy, ANN NEUROL, 47(4), 2000, pp. 552-553
Nuclear genes and oxidative phosphorylation disorders: a review
Authors: Smeitink, JAM Sengers, RCA Trijbels, FJM van den Heuvel, LP
Citation: Jam. Smeitink et al., Nuclear genes and oxidative phosphorylation disorders: a review, EUR J PED, 159, 2000, pp. S227-S231
A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy
Authors: Rubio-Gozalbo, ME Sengers, RCA Trijbels, JMF Doesburg, WH Janssen, AJM Verbeek, ALM Smeitink, JAM
Citation: Me. Rubio-gozalbo et al., A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy, NEUROPEDIAT, 31(3), 2000, pp. 114-121
I-cell disease presenting with severe hypophosphatemia and cardiomyopathy
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
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosinehydroxylase deficiency
Authors: de Rijk-van Andel, JF Gabreels, FJM Geurtz, B Steenbergen-Spanjers, GCH van den Heuvel, LPWJ Smeitink, JAM Wevers, RA
Citation: Jf. De Rijk-van Andel et al., L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosinehydroxylase deficiency, NEUROLOGY, 55(12), 2000, pp. 1926-1928
Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy
Authors: Dionisi-Vici, C Hoffmann, GF Leuzzi, V Hoffken, H Brautigam, C Rizzo, C Steebergen-Spanjers, GCH Smeitink, JAM Wevers, RA
Citation: C. Dionisi-vici et al., Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy, J PEDIAT, 136(4), 2000, pp. 560-562
Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome
Authors: Jira, PE Wevers, RA de Jong, J Rubio-Gozalbo, E Janssen-Zijlstra, FSM van Heyst, AFJ Sengers, RCA Smeitink, JAM
Citation: Pe. Jira et al., Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome, J LIPID RES, 41(8), 2000, pp. 1339-1346
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
Authors: Budde, SMS van den Heuvel, LPWJ Janssen, AJ Smeets, RJP Buskens, CAF DeMeirleir, L Van Coster, R Baethmann, M Voit, T Trijbels, JMF Smeitink, JAM
Citation: Sms. Budde et al., Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene, BIOC BIOP R, 275(1), 2000, pp. 63-68
beta-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
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
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
Authors: Rubio-Gozalbo, ME Heerschap, A Trijbels, JMF De Meirleir, L Thijssen, HOM Smeitink, JAM
Citation: Me. Rubio-gozalbo et al., Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency, MAGN RES IM, 17(6), 1999, pp. 939-944
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Authors: Triepels, RH van den Heuvel, LP Loeffen, JLCM Buskens, CAF Smeets, RJP Gozalbo, MER Budde, SMS Mariman, EC Wijburg, FA Barth, PG Trijbels, JMF Smeitink, JAM
Citation: Rh. Triepels et al., Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, ANN NEUROL, 45(6), 1999, pp. 787-790
D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Authors: van der Knaap, MS Jakobs, C Hoffmann, GF Nyhan, WL Renier, WO Smeitink, JAM Catsman-Berrevoets, CE Hjalmarson, O Vallance, H Sugita, K Bowe, CM Herrin, JT Craigen, WJ Buist, NRM Brookfield, DSK Chalmers, RA
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?, ANN NEUROL, 45(1), 1999, pp. 111-119
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Authors: Van Kuilenburg, ABP Vreken, P Abeling, NGGM Bakker, HD Meinsma, R Van Lenthe, H De Abreu, RA Smeitink, JAM Kayserili, H Apak, MY Christensen, E Holopainen, I Pulkki, K Riva, D Botteon, G Holme, E Tulinius, R Kleijer, WJ Beemer, FA Duran, M Niezen-Koning, KE Smit, GPA Jakobs, C Smit, LME Moog, U Spaapen, LJM Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency, HUM GENET, 104(1), 1999, pp. 1-9
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
Authors: Wevers, RA de Rijk-van Andel, JF Brautigam, C Geurtz, B van den Heuvel, LPWJ Steenbergen-Spanjers, GCH Smeitink, JAM Hoffmann, GF Gabreels, FJM
Citation: Ra. Wevers et al., A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC), J INH MET D, 22(4), 1999, pp. 364-373
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
Authors: Rubio-Gozalbo, ME Smeitink, JAM Ruitenbeek, W Ter Laak, H Mullaart, RA Schuelke, M Mariman, ECM Sengers, RCA Gabreels, FJM
Citation: Me. Rubio-gozalbo et al., Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency, NEUROLOGY, 52(2), 1999, pp. 383-386
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
Authors: Brautigam, C Steenbergen-Spanjers, GCH Hoffmann, GF Dionisi-Vici, C van den Heuvel, LPWJ Smeitink, JAM Wevers, RA
Citation: C. Brautigam et al., Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency, CLIN CHEM, 45(12), 1999, pp. 2073-2078
Hyperhomocysteinemia - A risk factor for ischemic stroke in children
Authors: van Beynum, IM Smeitink, JAM den Heijer, M Pothoff, MTWBT Blom, HJ
Citation: Im. Van Beynum et al., Hyperhomocysteinemia - A risk factor for ischemic stroke in children, CIRCULATION, 99(16), 1999, pp. 2070-2072
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency
Authors: Coenen, MJH van den Heuvel, LP Nijtmans, LGJ Morava, E Marquardt, I Girschick, HJ Trijbels, FJM Grivell, LA Smeitink, JAM
Citation: Mjh. Coenen et al., SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency, BIOC BIOP R, 265(2), 1999, pp. 339-344
Risultati: 1-25 | 26-26