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Results: 1-8 |
Results: 8
The facile detection of 1505G -> A in Gaucher patients with different phenotypes
Authors: Moraitou, M van Weely, S Verhoek, M Aerts, J Dimitriou, E Michelakakis, H
Citation: M. Moraitou et al., The facile detection of 1505G -> A in Gaucher patients with different phenotypes, BBA-MOL BAS, 1536(2-3), 2001, pp. 97-102
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
Authors: Paschke, E Milos, I Kreitner-Erlacher, H Hoefler, G Hoeltzenbein, M Kleijer, W Levade, T Michelakakis, H Radeva, B
Citation: E. Paschke et al., Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B, HUM GENET, 109(2), 2001, pp. 159-166
Thiamin-responsive maple syrup urine disease: Seizures after 7 years of satisfactory metabolic control
Authors: Delis, D Michelakakis, H Katsarou, E Bartsocas, CS
Citation: D. Delis et al., Thiamin-responsive maple syrup urine disease: Seizures after 7 years of satisfactory metabolic control, J INH MET D, 24(6), 2001, pp. 683-684
A novel mutation in the flavin-containing monooxygenase 3 gene, FMO3, thatcauses fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy
Authors: Murphy, HC Dolphin, CT Janmohamed, A Holmes, HC Michelakakis, H Shephard, EA Chalmers, RA Phillips, IR Iles, RA
Citation: Hc. Murphy et al., A novel mutation in the flavin-containing monooxygenase 3 gene, FMO3, thatcauses fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy, PHARMACOGEN, 10(5), 2000, pp. 439-451
Iron overload and kidney lysosomes
Authors: Dimitriou, E Kairis, M Sarafidou, J Michelakakis, H
Citation: E. Dimitriou et al., Iron overload and kidney lysosomes, BBA-MOL BAS, 1501(2-3), 2000, pp. 138-148
Carnitine supplementation and ketogenesis by small-for-date neonates on medium- and long-chain fatty acid formulae
Authors: Labadaridis, J Mavridou, I Sarafidou, G Alexiou, N Costalos, C Michelakakis, H
Citation: J. Labadaridis et al., Carnitine supplementation and ketogenesis by small-for-date neonates on medium- and long-chain fatty acid formulae, BIOL NEONAT, 77(1), 2000, pp. 25-28
Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature
Authors: Kaloterakis, A Filiotou, A Koskinas, J Raptis, I Zouboulis, C Michelakakis, H Hadziyannis, S
Citation: A. Kaloterakis et al., Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature, J INTERN M, 246(6), 1999, pp. 587-590
Pregnancy in Gaucher disease
Authors: Sakarelou, N Kosmaidou, Z Mesogitis, S Dimitriou, E Michelakakis, H
Citation: N. Sakarelou et al., Pregnancy in Gaucher disease, EUR J OB GY, 83(1), 1999, pp. 113-114
Risultati: 1-8 |