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Results:
1-8
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Results: 8
Authors:
Vives-Bauza, C
Gamez, J
Roig, M
Briones, P
Cervera, C
Solano, A
Montoya, J
Andreu, AL
Citation: C. Vives-bauza et al., Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene, ANN MED, 33(7), 2001, pp. 493-496
Authors:
Briones, P
Giros, M
Martinez, V
Citation: P. Briones et al., Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation, J INH MET D, 24(1), 2001, pp. 79-80
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:
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
Authors:
Aebi, M
Helenius, A
Schenk, B
Barone, R
Fiumara, A
Berger, EG
Hennet, T
Imbach, T
Stutz, A
Bjursell, C
Uller, A
Wahlstrom, JG
Briones, P
Cardo, E
Clayton, P
Winchester, B
Cormier-Daire, V
de Lonlay, P
Cuer, M
Dupre, T
Seta, N
de Koning, T
Dorland, L
de Loos, F
Kupers, L
Fabritz, L
Hasilik, M
Marquardt, T
Niehues, R
Freeze, H
Grunewald, S
Heykants, L
Jaeken, J
Matthijs, G
Schollen, E
Keir, G
Kjaergaard, S
Schwartz, M
Skovby, F
Klein, A
Roussel, P
Korner, C
Lubke, T
Thiel, C
von Figura, K
Koscielak, J
Krasnewich, D
Lehle, L
Peters, V
Raab, M
Saether, O
Schachter, H
Van Schaftingen, E
Verbert, A
Vilaseca, A
Wevers, R
Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
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:
Aoki, Y
Li, X
Sakamoto, O
Hiratsuka, M
Akaishi, H
Xu, LQ
Briones, P
Suormala, T
Baumgartner, ER
Suzuki, Y
Narisawa, K
Citation: Y. Aoki et al., Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency, HUM GENET, 104(2), 1999, pp. 143-148
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:
1-8
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