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Results: 1-12 |
Results: 12
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease
Authors: Berger, I Shaag, A Anikster, Y Baumgartner, ER Bar-Meir, M Joseph, A Elpeleg, ON
Citation: I. Berger et al., Mutation analysis of the MCM gene in Israeli patients with mut(0) disease, MOL GEN MET, 73(1), 2001, pp. 107-110
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
Authors: Moslinger, D Stockler-Ipsiroglu, S Scheibenreiter, S Tiefenthaler, M Muhl, A Seidl, R Strobl, W Plecko, B Suormala, T Baumgartner, ER
Citation: D. Moslinger et al., Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria, EUR J PED, 160(5), 2001, pp. 277-282
CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD
Authors: Tomaske, M Bosk, A Heinemann, MK Sieverding, L Baumgartner, ER Fowler, B Trefz, FK
Citation: M. Tomaske et al., CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD, J INH MET D, 24(4), 2001, pp. 511-512
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
Authors: Baumgartner, MR Almashanu, S Suormala, T Obie, C Cole, RN Packman, S Baumgartner, ER Valle, D
Citation: Mr. Baumgartner et al., The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency, J CLIN INV, 107(4), 2001, pp. 495-504
3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father
Authors: Visser, G Suormala, T Smit, GPA Reijngoud, DJ Bink-Boelkens, MTE Niezen-Koning, KE Baumgartner, ER
Citation: G. Visser et al., 3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father, EUR J PED, 159(12), 2000, pp. 901-904
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier
Authors: Baur, B Baumgartner, ER
Citation: B. Baur et Er. Baumgartner, Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier, BRAIN RES, 858(2), 2000, pp. 348-355
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency
Authors: Aoki, Y Li, X Sakamoto, O Hiratsuka, M Akaishi, H Xu, LQ Briones, P Suormala, T Baumgartner, ER Suzuki, Y Narisawa, K
Citation: Y. Aoki et al., Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency, HUM GENET, 104(2), 1999, pp. 143-148
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
Authors: Steen, C Baumgartner, ER Duran, M Lehnert, W Suormala, T Fingerhut, R Stehn, M Kohlschutter, A
Citation: C. Steen et al., Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency, EUR J PED, 158(9), 1999, pp. 730-733
Transcobalamin II deficiency with methylmalonic aciduria in three sisters
Authors: Bibi, H Gelman-Kohan, Z Baumgartner, ER Rosenblatt, DS
Citation: H. Bibi et al., Transcobalamin II deficiency with methylmalonic aciduria in three sisters, J INH MET D, 22(7), 1999, pp. 765-772
Holocarboxylase synthetase deficiency: Report of a case with onset in lateinfancy
Authors: Touma, E Suormala, T Baumgartner, ER Gerbaka, B de Baulny, HO Loiselet, J
Citation: E. Touma et al., Holocarboxylase synthetase deficiency: Report of a case with onset in lateinfancy, J INH MET D, 22(2), 1999, pp. 115-122
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency
Authors: Sakamoto, O Suzuki, Y Li, X Aoki, Y Hiratsuka, M Suormala, T Baumgartner, ER Gibson, KM Narisawa, K
Citation: O. Sakamoto et al., Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency, PEDIAT RES, 46(6), 1999, pp. 671-676
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Poorthuis, BJHM Scholte, HR Vianey-Saban, C Wanders, R Ijlst, L Morris, A Pourfarzam, M Bartlett, K Baumgartner, ER deKlerk, JBC Schroeder, LD Corydon, TJ Lund, H Winter, V Bross, P Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, AM J HU GEN, 64(2), 1999, pp. 479-494
Risultati: 1-12 |