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Results: 1-9 |
Results: 9
Structure of the PCCA gene and distribution of mutations causing propionicacidemia
Authors: Campeau, E Desviat, LR Leclerc, D Wu, XC Perez, B Ugarte, M Gravel, RA
Citation: E. Campeau et al., Structure of the PCCA gene and distribution of mutations causing propionicacidemia, MOL GEN MET, 74(1-2), 2001, pp. 238-247
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism
Authors: Gallardo, ME Desviat, LR Rodriguez, JM Esparza-Gordillo, J Perez-Cerda, C Perez, B Rodriguez-Pombo, P Criado, O Sanz, R Morton, DH Gibson, KM Le, TP Ribes, A de Cordoba, SR Ugarte, M Penalva, MA
Citation: Me. Gallardo et al., The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism, AM J HU GEN, 68(2), 2001, pp. 334-346
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
Authors: Perez-Cerda, C Merinero, B Rodriguez-Pombo, P Perez, B Desviat, LR Muro, S Richard, E Garcia, MJ Gangoiti, J Sala, PR Sanz, P Briones, P Ribes, A Martinez-Pardo, M Campistol, J Perez, M Lama, R Murga, ML Lema-Garrett, T Verdu, A Ugarte, M
Citation: C. Perez-cerda et al., Potential relationship between genotype and clinical outcome in propionic acidaemia patients, EUR J HUM G, 8(3), 2000, pp. 187-194
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains
Authors: Muro, S Perez, B Rodriguez-Pombo, P Desviat, LR Perez-Cerda, C Ugarte, M
Citation: S. Muro et al., Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains, J INH MET D, 23(4), 2000, pp. 300-304
Expression analysis of phenylketonuria mutations - effect on folding and stability of the phenylalanie hydroxylase protein
Authors: Gamez, A Perez, B Ugarte, M Desviat, LR
Citation: A. Gamez et al., Expression analysis of phenylketonuria mutations - effect on folding and stability of the phenylalanie hydroxylase protein, J BIOL CHEM, 275(38), 2000, pp. 29737-29742
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene
Authors: Zekanowski, C Perez, B Desviat, LR Wiszniewski, W Ugarte, M
Citation: C. Zekanowski et al., In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene, ACT BIOCH P, 47(2), 2000, pp. 365-369
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
Authors: Ugarte, M Perez-Cerda, C Rodriguez-Pombo, P Desviat, LR Perez, B Richard, E Muro, S Campeau, E Ohura, T Gravel, RA
Citation: M. Ugarte et al., Overview of mutations in the PCCA and PCCB genes causing propionic acidemia, HUM MUTAT, 14(4), 1999, pp. 275-282
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions
Authors: Desviat, LR Perez, B Gamez, A Sanchez, A Garcia, MJ Martinez-Pardo, M Marchante, C Boveda, D Baldellou, A Arena, J Sanjurjo, P Fernandez, A Cabello, ML Ugarte, M
Citation: Lr. Desviat et al., Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions, EUR J HUM G, 7(3), 1999, pp. 386-392
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein
Authors: Richard, E Desviat, LR Perez, B Perez-Cerda, C Ugarte, M
Citation: E. Richard et al., Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein, BBA-MOL BAS, 1453(3), 1999, pp. 351-358
Risultati: 1-9 |