AAAAAA
Results:
1-20
|
Results: 20
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
Authors:
Pavia, C
Ferrer, I
Valls, C
Artuch, R
Colome, C
Vilaseca, MA
Citation: C. Pavia et al., Plasma homocysteine levels in type 1 diabetic patients, DIABET CARE, 24(5), 2001, pp. 970-971
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
Authors:
Vilaseca, MA
Sierra, C
Colome, C
Artuch, R
Vall, C
Munoz-Almagro, C
Vilches, MA
Fortuny, C
Citation: Ma. Vilaseca et al., Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus-infected children, EUR J CL IN, 31(11), 2001, pp. 992-998
Authors:
Pinto, X
Vilaseca, MA
Garcia-Giralt, N
Ferrer, I
Pala, M
Meco, JF
Mainou, C
Ordovas, JM
Grinberg, D
Balcells, S
Citation: X. Pinto et al., Homocysteine and the MTHFR 677C -> T allele in premature coronary artery disease. Case control and family studies, EUR J CL IN, 31(1), 2001, pp. 24-30
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
Authors:
Colome, C
Ferrer, I
Artuch, R
Vilaseca, MA
Pineda, M
Briones, P
Citation: C. Colome et al., Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation, CLIN CH L M, 38(10), 2000, pp. 965-969
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
Authors:
Calvo, M
Artuch, R
Macia, E
Luaces, C
Vilaseca, MA
Pou, J
Pineda, M
Citation: M. Calvo et al., Diagnostic approach to inborn errors of metabolism in an emergency unit, PEDIAT EMER, 16(6), 2000, pp. 405-408
Authors:
Pavia, C
Artuch, R
Ferrer, I
Colome, C
Valls, C
Vilaseca, MA
Citation: C. Pavia et al., Total homocysteine in patients with type 1 diabetes, DIABET CARE, 23(1), 2000, pp. 84-87
Authors:
Lopez-Quesada, EL
Vilaseca, MA
Gonzalez, S
Citation: El. Lopez-quesada et al., Homocysteine and pregnancy, MED CLIN, 115(9), 2000, pp. 352-356
Authors:
Pineda, M
Vilaseca, MA
Artuch, R
Santos, S
Gonzalez, MMG
Sau, I
Aracil, A
Van Schaftingen, E
Jaeken, J
Citation: M. Pineda et al., 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome, DEVELOP MED, 42(9), 2000, pp. 629-633
Authors:
Artuch, R
Colome, C
Playan, A
Alcaine, MJ
Briones, P
Montoya, J
Vilaseca, MA
Pineda, M
Citation: R. Artuch et al., Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases, CLIN BIOCH, 33(6), 2000, pp. 481-485
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
Authors:
Moyano, D
Sierra, C
Brandi, N
Artuch, R
Mira, A
Garcia-Tornel, S
Vilaseca, MA
Citation: D. Moyano et al., Antioxidant status in anorexia nervosa, INT J EAT D, 25(1), 1999, pp. 99-103
Authors:
Ros, J
Vilaseca, MA
Lambruschini, N
Mas, A
Lindstedt, S
Holme, E
Citation: J. Ros et al., NTBC as palliative treatment in chronic tyrosinaemia type I, J INH MET D, 22(5), 1999, pp. 665-A666
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
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
Authors:
Artuch, R
Vilaseca, MA
Pineda, M
Citation: R. Artuch et al., Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease, J INH MET D, 21(8), 1998, pp. 837-845
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:
1-20
|