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Results: 1-9 |
Results: 9
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinicaland molecular studies
Authors: Corrons, JLV Alvarez, R Pujades, A Zarza, R Oliva, E Lasheras, G Callis, M Ribes, A Gelbart, T Beutler, E
Citation: Jlv. Corrons et al., Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinicaland molecular studies, BR J HAEM, 112(2), 2001, pp. 475-482
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
Mutation analysis of the GCDH gene in Italian and Portuguese patients withglutaric aciduria type I
Authors: Busquets, C Soriano, M de Almeida, IT Garavaglia, B Rimoldi, M Rivera, I Uziel, G Cabral, A Coll, MJ Ribes, A
Citation: C. Busquets et al., Mutation analysis of the GCDH gene in Italian and Portuguese patients withglutaric aciduria type I, MOL GEN MET, 71(3), 2000, pp. 535-537
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
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
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
Pyroglutamic aciduria and nephropathic cystinosis
Authors: Rizzo, C Ribes, A Pastore, A Dionisi-Vici, C Greco, M Rizzoni, G Federici, G
Citation: C. Rizzo et al., Pyroglutamic aciduria and nephropathic cystinosis, J INH MET D, 22(3), 1999, pp. 224-226
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
Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity
Authors: Pineda, M Ribes, A Busquets, C Vilaseca, MA Aracil, A Christensen, E
Citation: M. Pineda et al., Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity, DEVELOP MED, 40(12), 1998, pp. 840-842
Risultati: 1-9 |