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Results: 1-13 |
Results: 13
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
Authors: Mallolas, J Vilaseca, MA Pavia, C Lambruschini, N Cambra, FJ Campistol, J Gomez, D Carrio, A Estivill, X Mila, M
Citation: J. Mallolas et al., Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes, J MOL MED-J, 78(12), 2001, pp. 721-724
Parasagittal cerebral injury: Comments on a letter
Authors: Campistol, J
Citation: J. Campistol, Parasagittal cerebral injury: Comments on a letter, J CHILD NEU, 16(4), 2001, pp. 300-300
Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria
Authors: Artuch, R Colome, C Vilaseca, MA Sierra, C Cambra, FJ Lambruschini, N Campistol, J
Citation: R. Artuch et al., Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria, J INH MET D, 24(3), 2001, pp. 359-366
Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?
Authors: Colome, C Artuch, R Lambruschini, N Cambra, FJ Campistol, J Vilaseca, MA
Citation: C. Colome et al., Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?, CLIN BIOCH, 34(5), 2001, pp. 373-376
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
Children with stroke: Polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status
Authors: Cardo, E Monros, E Colome, C Artuch, R Campistol, J Pineda, M Vilaseca, MA
Citation: E. Cardo et al., Children with stroke: Polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status, J CHILD NEU, 15(5), 2000, pp. 295-298
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
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes
Authors: Mallolas, J Mila, M Lambruschini, N Cambra, FJ Campistol, J Vilaseca, H
Citation: J. Mallolas et al., Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes, MOL GEN MET, 67(2), 1999, pp. 156-161
Parasagittal cerebral injury: Magnetic resonance findings
Authors: Campistol, J Poo, P Alvarez, EF Carratala, F
Citation: J. Campistol et al., Parasagittal cerebral injury: Magnetic resonance findings, J CHILD NEU, 14(10), 1999, pp. 683-685
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
Authors: Mallolas, J Vilaseca, MA Campistol, J Lambruschini, N Cambra, FJ Estivill, X Mila, M
Citation: J. Mallolas et al., Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation, HUM GENET, 105(5), 1999, pp. 468-473
Fatal haemorrhagic infarct in an infant with homocystinuria
Authors: Cardo, E Campistol, J Caritg, J Ruiz, S Vilaseca, MA Kirkham, F Blom, HJ
Citation: E. Cardo et al., Fatal haemorrhagic infarct in an infant with homocystinuria, DEVELOP MED, 41(2), 1999, pp. 132-135
Decreased serum ubiquinone-10 concentrations in phenylketonuria
Authors: Artuch, R Vilaseca, MA Moreno, J Lambruschini, N Cambra, FJ Campistol, J
Citation: R. Artuch et al., Decreased serum ubiquinone-10 concentrations in phenylketonuria, AM J CLIN N, 70(5), 1999, pp. 892-895
Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases
Authors: Campistol, J Gassio, R Pineda, M Fernandez-Alvarez, E
Citation: J. Campistol et al., Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases, DEVELOP MED, 40(11), 1998, pp. 771-774
Risultati: 1-13 |