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Results: 1-25 | 26-27
Results: 1-25/27
Asymptomatic diastolic compression of a coronary artery
Authors: Toquero, J Oteo, JF Ugarte, M
Citation: J. Toquero et al., Asymptomatic diastolic compression of a coronary artery, HEART, 85(3), 2001, pp. 336-336
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
A novel single-base substitution (380C > T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene
Authors: Nakamura, K Fukao, T Perez-Cerda, C Luque, C Song, XQ Naiki, Y Kohno, Y Ugarte, M Kondo, N
Citation: K. Nakamura et al., A novel single-base substitution (380C > T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene, MOL GEN MET, 72(2), 2001, pp. 115-121
Zinc in the retina
Authors: Ugarte, M Osborne, NN
Citation: M. Ugarte et Nn. Osborne, Zinc in the retina, PROG NEUROB, 64(3), 2001, pp. 219-249
Ethics of autobiography: Replacing the subject in modern Spain
Authors: Ugarte, M
Citation: M. Ugarte, Ethics of autobiography: Replacing the subject in modern Spain, AN LIT ESP, 26(2), 2001, pp. 634-636
The role of zinc in the dark-adapted retina studied directly using microPIXE
Authors: Palsgard, E Ugarte, M Rajta, I Grime, GW
Citation: E. Palsgard et al., The role of zinc in the dark-adapted retina studied directly using microPIXE, NUCL INST B, 181, 2001, pp. 489-492
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 in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
Authors: Ruetschi, U Cerone, R Perez-Cerda, C Schiaffino, MC Standing, S Ugarte, M Holme, E
Citation: U. Ruetschi et al., Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III, HUM GENET, 106(6), 2000, pp. 654-662
Diffuse reversible coronary stenosis
Authors: Toquero, J Oteo, JF Ugarte, M
Citation: J. Toquero et al., Diffuse reversible coronary stenosis, REV ESP CAR, 53(12), 2000, pp. 1653-1654
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis
Authors: Busquets, C Coll, MJ Merinero, B Ugarte, M Ruiz, MA Bermejo, AM Ribes, A
Citation: C. Busquets et al., Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis, PRENAT DIAG, 20(9), 2000, pp. 761-764
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
Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism
Authors: Gibson, KM Ugarte, M Fukao, T Mitchell, GA
Citation: Km. Gibson et al., Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism, METH ENZYM, 324, 2000, pp. 432-453
Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct
Authors: Busquets, C Merinero, B Christensen, E Gelpi, JL Campistol, J Pineda, M Fernandez-Alvarez, E Prats, JM Sans, A Arteaga, R Marti, M Campos, J Martinez-Pardo, M Martinez-Bermejo, A Ruiz-Falco, ML Vaquerizo, J Orozco, M Ugarte, M Coll, MJ Ribes, A
Citation: C. Busquets et al., Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct, PEDIAT RES, 48(3), 2000, pp. 315-322
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
NMDA induces BDNF expression in the albino rat retina in vivo
Authors: Vecino, E Ugarte, M Nash, MS Osborne, NN
Citation: E. Vecino et al., NMDA induces BDNF expression in the albino rat retina in vivo, NEUROREPORT, 10(5), 1999, pp. 1103-1106
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
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
Authors: Merinero, B Pascual, SIP Perez-Cerda, C Gangoiti, J Castro, M Garcia, MJ Castroviejo, IP Vianey-Saban, C Andresen, B Gregersen, N Ugarte, M
Citation: B. Merinero et al., Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(7), 1999, pp. 802-810
Neuroprotection in relation to retinal ischemia and relevance to glaucoma
Authors: Osborne, NN Ugarte, M Chao, M Childlow, G Bae, JH Wood, JPM Nash, MS
Citation: Nn. Osborne et al., Neuroprotection in relation to retinal ischemia and relevance to glaucoma, SURV OPHTHA, 43, 1999, pp. S102-S128
The vision and blindness of Concha Espina: Her engage works
Authors: Ugarte, M
Citation: M. Ugarte, The vision and blindness of Concha Espina: Her engage works, REV EST HIS, 33(2), 1999, pp. 390-392
Working at a discount: Class consciousness in Merce Rodoreda's La 'Placa del Diamant'
Authors: Ugarte, M
Citation: M. Ugarte, Working at a discount: Class consciousness in Merce Rodoreda's La 'Placa del Diamant', MLN-MOD LAN, 114(2), 1999, pp. 297-314
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
Authors: Muro, S Perez-Cerda, C Rodriguez-Pombo, P Perez, B Briones, P Ribes, A Ugarte, M
Citation: S. Muro et al., Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia, J MED GENET, 36(5), 1999, pp. 412-414
Risultati: 1-25 | 26-27