Estimation of the total number of disease‐causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
Arranz, J. A., Riudor, E., Marco‐Marín, C., Rubio, V.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria
Tort, F, del Toro, M, Lissens, W, Montoya, J, Fernàndez-Burriel, M, Font, A, Buján, N, Navarro-Sastre, A, López-Gallardo, E, Arranz, JA, Riudor, E, Briones, P, Ribes, A
Published in Clinical genetics (01.09.2011)
Published in Clinical genetics (01.09.2011)
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Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
Arranz, J. A, Madrigal, I, Riudor, E, Armengol, Ll, Milà, M
Published in Journal of inherited metabolic disease (01.10.2007)
Published in Journal of inherited metabolic disease (01.10.2007)
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Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients
Arranz, J.A., Piñol, F., Kozak, L., Pérez-Cerdá, C., Cormand, B., Ugarte, M., Riudor, E.
Published in Human mutation (01.09.2002)
Published in Human mutation (01.09.2002)
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Plasma urea-cycle-related amino acids, ammonium levels, and urinary orotic acid excretion in short-bowel patients managed with an oral diet
PITA, A.M., WAKABAYASHI, Y., FERNANDEZ-BUSTOS, M.A., VIRGILI, N., RIUDOR, E., SOLER, J., FARRIOL, M.
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2003)
Published in Clinical nutrition (Edinburgh, Scotland) (01.02.2003)
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Partial ornithine transcarbamylase deficiency
Riudor, Encarnació, Arranz, Jose Antonio, Rodés, Margarida
Published in Pediatrics (Evanston) (01.05.2003)
Published in Pediatrics (Evanston) (01.05.2003)
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Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
RIBES, A, RIUDOR, E, ROIG, M, GARAVAGLIA, B, MARTINEZ, G, ARRANZ, A, INVERNIZZI, F, BRIONES, P, LAMANTEA, E, SENTIS, M, BARCELO, A
Published in European journal of pediatrics (01.04.1998)
Published in European journal of pediatrics (01.04.1998)
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Plasma free fatty acids in mitochondrial fatty acid oxidation defects
Martı́nez, G, Jiménez-Sánchez, G, Divry, P, Vianey-Saban, C, Riudor, E, Rodés, M, Briones, P, Ribes, A
Published in Clinica chimica acta (28.11.1997)
Published in Clinica chimica acta (28.11.1997)
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Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants
Riudor, E., Arranz, J. A., Rodés, M., Rubio, V., Sentís, M., Burlina, A. B.
Published in Journal of inherited metabolic disease (01.11.2000)
Published in Journal of inherited metabolic disease (01.11.2000)
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Massive 5‐oxoprolinuria with normal 5‐oxoprolinase and glutathione synthetase activities
Riudor, E., Arranz, J. A., Alvarez, R., Carlsson, K., Toro, M., Salmerón, F., Piñol, F., Ristoff, E., Sentís, M., Larsson, A.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
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Neonatal medium‐chain acyl‐CoA dehydrogenase deficiency presenting with very high creatine kinase levels
Riudor, E., Arranz, J. A., Anguera, R., Salcedo, S., Roig, M., Toro, M., Bahima, C., Martínez, G., Ribes, A., Vianey‐Saban, C., Sentís, M.
Published in Journal of inherited metabolic disease (01.08.1998)
Published in Journal of inherited metabolic disease (01.08.1998)
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Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities
Ribes, A, Riudor, E, Valcárel, R, Salvá, A, Castelló, F, Murillo, S, Dominguez, C, Rötig, A, Jakobs, C
Published in Journal of inherited metabolic disease (01.05.1993)
Published in Journal of inherited metabolic disease (01.05.1993)
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Significance of bound glutarate in the diagnosis of glutaric aciduria type I
Ribes, A, Riudor, E, Briones, P, Christensen, E, Campistol, J, Millington, D S
Published in Journal of inherited metabolic disease (01.05.1992)
Published in Journal of inherited metabolic disease (01.05.1992)
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Medium‐chain acyl‐CoA dehydrogenase deficiency in Spain
Martínez, G., Ribes, A., Briones, P., Rodés, M., Baldellou, A., Pineda, M., Rodrigo, C., Lorente, I., García‐Silva, M. T., Riudor, E., Jaraba, P., Lopez‐Casas, J., Nuñez‐Roldan, A.
Published in Journal of inherited metabolic disease (01.08.1998)
Published in Journal of inherited metabolic disease (01.08.1998)
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Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency
Riudor, E, Ribes, A, Perez-Cerda, C, Arranz, J A, Mora, J, Yeste, D, Castello, F, Christensen, B, Sovik, O
Published in Journal of inherited metabolic disease (01.11.1995)
Published in Journal of inherited metabolic disease (01.11.1995)
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Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Ribes, A, Riudor, E, Navarro, C, Boronat, M, Marti, M, Hale, D E
Published in Journal of inherited metabolic disease (01.03.1992)
Published in Journal of inherited metabolic disease (01.03.1992)
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Hyperlactatemia and in utero exposure to antiretrovirals: is the control group the clue?
Soler-Palacín, Pere, Martín-Nalda, Andrea, Martínez-Gómez, Xavier, Melendo, Susana, Riudor, Encarnació, Arranz, Jose Antonio, Espiau, Maria, Figueras, Concepció
Published in AIDS research and human retroviruses (01.08.2012)
Published in AIDS research and human retroviruses (01.08.2012)
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