X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females von Coll, MJ, Palau, N, Camps, C, Ruiz, M, Pàmpols, T, Girós, M

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Characterization of thrombosis risk in ambulatory patients with cancer: results of the observational, prospective, multicenter CARTAGO study von Trujillo-Santos, Javier, García-Escobar, Ignacio, Salgado, Mercedes, Araújo, António, Martínez-de-Castro, Eva, Molina, Raquel, Castellón-Rubio, Victoria E, Domènech, Pere, Gallardo, Enrique, Colomé, Esteve, Torres, Ferran, Benítez-Montañez, José-Carlos, Porta, Rut, Lobo-de-Mena, Míriam, Malheiro, Mariana, Font, Carme, Brozos-Vázquez, Elena, Garicano, Fernando, Sapena, Víctor, Costa, Ana-Lucia, Albuquerque, Ana-Cristina, Cerezuela, Pablo

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Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening von Arias, Angela, Corbella, Marc, Fons, Carmen, Sempere, Angela, García-Villoria, Judit, Ormazabal, Aida, Poo, Pilar, Pineda, Mercé, Vilaseca, María Antonia, Campistol, Jaume, Briones, Paz, Pàmpols, Teresa, Salomons, Gajja S., Ribes, Antonia, Artuch, Rafael

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Peroxisome Mosaics in the Liver of Patients and the Regulation of Peroxisome Expression in Rat Hepatocyte Cultures von ROELS, FRANK, TYTGAT, TOM, BEKEN, SONJA, GIROS, MARISA, ESPEEL, MARC, DE PREST, BETTY, KERCKAERT, INGRID, PÀMPOLS, T., ROGIERS, VERA

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Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy von Pujol, Aurora, Ferrer, Isidre, Camps, Carme, Metzger, Elisabeth, Hindelang, Colette, Callizot, Noëlle, Ruiz, Montse, Pàmpols, Teresa, Giròs, Marisa, Mandel, Jean Louis

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Identification of a new frameshift mutation (1801delAG) in the ALD gene von Barceló, A., Girós, M., Sarde, C.O., Martínez-Bermejo, A., Mandel, J.L., Pámpols, T., Estivill, X.

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Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene von Barceló, A, Girós, M, Albiach, V J, Vaquerizo, J, Pàmpols, T, Estivill, X

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Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency : clinical course, neuropathology and brain lipid composition in this Gaucher disease variant von PAMPOLS, T, PINEDA, M, GIROS, M. L, FERRER, I, CUSI, V, CHABAS, A, SANMARTI, F. X, VANIER, M. T, CHRISTOMANOU, H

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De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene von BARCELO, A, GIROS, M, SARDE, C. O, PINTOS, G, MANDEL, J. L, PAMPOLS, T, ESTIVILL, X

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Pilot study for the neonatal screening of fragile X syndrome von Rifé, M., Mallolas, J., Badenas, C., Tazón, B., Miguélez, M. Rodríguez, Pàmpols, T., Sànchez, A., Milà, M.

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Projecte de rehabilitació energètica i bioclimàtica d'un edifici a la ciutat de Lleida von Medina Pujol, Miriam

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X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds von Ruiz, M., Coll, M.J., Pàmpols, T., Girós, M.

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Neonatal screening von Pàmpols, Teresa

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Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver von GIRÓS, M., ROELS, F., PRATS, J., RUIZ, M., RIBES, A., ESPEEL, M., WANDERS, R. J. A., SCHUTGENS, R. B. H., PÁMPOLS, T.

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Auditoria ambiental i rehabilitació energètica d'un immoble plurifamiliar von Morell Tornos, Maria

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Rehabilitació energètica d'un edifici existent a la ciutat de Lleida von Esteve Blanch, Oriol

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ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy von Ruiz, M., Coll, M. J., Pampols, T., Girós, M.

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The diagnosis of peroxisomal disorders in Spain during the period 1987-1997 von Girós, M, Ruiz, M, Ribes, A, Pàmpols, T

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Activator protein deficient Gaucher's disease: A second patient with the newly identified lipid storage disorder von Christomanou, H., Chabás, A., Pámpols, T., Guardiola, A.

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Glycerol trioleate/glycerol trierucate therapy in X‐linked adrenoleukodystrophy: Saturated and unsaturated fatty acids in blood cells. Implications for the follow‐up von Ruiz, M., Pampols, T., Girós, M.

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