Search Results - "Vives Piñera, I"

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry by Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, Alcalde Martin, C, Baethmann, M, Ballhausen, D, Blasco-Alonso, J, Boy, N, Bueno, M, Burgos Peláez, R, Cerone, R, Chabrol, B, Chapman, K A, Couce, M L, Crushell, E, Dalmau Serra, J, Diogo, L, Ficicioglu, C, García Jimenez, M C, García Silva, M T, Gaspar, A M, Gautschi, M, González-Lamuño, D, Gouveia, S, Grünewald, S, Hendriksz, C, Janssen, M C H, Jesina, P, Koch, J, Konstantopoulou, V, Lavigne, C, Lund, A M, Martins, E G, Meavilla Olivas, S, Mention, K, Mochel, F, Mundy, H, Murphy, E, Paquay, S, Pedrón-Giner, C, Ruiz Gómez, M A, Santra, S, Schiff, M, Schwartz, I V, Scholl-Bürgi, S, Servais, A, Skouma, A, Tran, C, Vives Piñera, I, Walter, J, Weisfeld-Adams, J

“…To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and…”
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Mitochondrial DNA depletion syndrome-13: a case with an unusual onset by Díaz-Córcoles, R, Ibáñez-Micó, S, Ballesta-Martínez, M J, Vives-Piñera, I, Domingo-Jiménez, R

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Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común by Díaz Córcoles, Rocío, Ibáñez Micó, Salvador, Ballesta Martínez, María Juliana, Vives Piñera, Inmaculada, Domingo Jiménez, Rosario

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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry by Molema, Femke, Gleich, Florian, Burgard, Peter, Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C.

“…Organic acidurias (OAD) and urea‐cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies…”
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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment by Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I.

“…Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to…”
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A descriptive study of neurocysticercosis in a tertiary care hospital by Más-Sesé, G, Vives-Piñera, I, Fernández-Barreiro, A, Martínez-Lage, J F, Martínez-Salcedo, E, Alarcón-Martínez, H, Domingo-Jiménez, R, Puche-Mira, A, Casas-Fernández, C

“…Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is a disease that is endemic to certain countries in South…”
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Estudio descriptivo de neurocisticercosis en un hospital terciario by Más Sesé, Gemma, Vives Piñera, Inmaculada, Fernández Barreiro, Andrés, Martínez Lage, Juan Francisco, Martínez Salcedo, Eduardo, Alarcón Martínez, Helena, Pérez Fernández, Virginia, Domingo Jiménez, Rosario, Casas Fernández, Carlos

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Mitochondrial DNA depletion syndrome-13: a case with an unusual onset by Díaz-Córcoles, R, Ibáñez-Micó, S, Ballesta-Martínez, M J, Vives-Piñera, I, Domingo-Jiménez, R

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