Search Results - "Ruiz Gómez, Maria Ángeles"

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform by Abad-Morales, Víctor, Wert, Ana, Ruiz Gómez, María Ángeles, Navarro, Rafael, Pomares, Esther

“…This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and…”
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Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency by Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie‐Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A., Chien, Yin‐Hsiu, Huemer, Martina, Ješina, Pavel, Janssen, Mirian C. H., Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras‐Hurtado, Gloria Liliana, Benoist, Jean‐François, Damaj, Léna, Schiff, Manuel, Martins, Ana Maria, Alonso, Javier Blasco, Chabrol, Brigitte, Crushell, Ellen, Dionisi‐Vici, Carlo, Grünewald, Stephanie, Mention, Karine, Mundy, Helen, Murphy, Elaine, Fraile, Pilar Quijada, Ruiz, Carlos José, Ruiz Gómez, Maria Ángeles, Santra, Saikat, Scherer, Thomas, Stainforth, Collette, Stepien, Karolina M., Sunder‐Plassmann, Gere, Van Hove, Johan L. K.

“…MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early‐onset…”
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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, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

“…© 2018 SSIEM Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the…”
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Extensive extra-osseous accumulation of 99mTc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT by Sainz Esteban, Aurora, González Selma, María Luisa, Ruiz-Gómez, María Ángeles, García-Talavera San Miguel, Paloma, Gamazo Laherrán, Claudia, Olmos García, Roberto

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Malaria in Spain: Is it possible to return as an indigenous disease? by Cantón De Seoane, Juan, Gómez Ruiz, María de los Ángeles, Rodríguez Sanz, Marta

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Extensive extra-osseous accumulation of 99mTc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT by Sainz Esteban, Aurora, González Selma, María Luisa, Ruiz-Gómez, María Ángeles, García-Talavera San Miguel, Paloma, Gamazo Laherrán, Claudia, Olmos García, Roberto

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Extensive extra-osseous accumulation of99m Tc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT by Sainz Esteban, Aurora, González Selma, María Luisa, Ruiz-Gómez, María Ángeles, García-Talavera San Miguel, Paloma, Gamazo Laherrán, Claudia, Olmos García, Roberto

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Malaria en España: ¿es posible su regreso como enfermedad autóctona? by Cantón De Seoane, Juan, Gómez Ruiz, María de los Ángeles, Rodríguez Sanz, Marta

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Newborn screening for homocystinurias: Recent recommendations versus current practice by Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

“…Purpose To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods Twenty‐two of 32 NBS…”
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Extensive extra-osseous accumulation of (99m)Tc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT by Sainz Esteban, Aurora, González Selma, María Luisa, Ruiz-Gómez, María Ángeles, García-Talavera San Miguel, Paloma, Gamazo Laherrán, Claudia, Olmos García, Roberto

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Homocistinuria y Acidemia Metilmalónica (CbIC) de evolución fatal en un recién nacido: a propósito de un caso by Vetter Laracy, Susanne Irene Christa, Ribes Rubió, Antònia, Corral Barea, Helena, Ruiz Gómez, María Ángeles, de Carlos Vicente, Juan Carlos, García Villoria, Judit, Vilaseca Busca, María Antonia, Torres, M.ª A

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Malaria in Spain: Is it possible to return as an indigenous disease? by Cantón De Seoane, Juan, Gómez Ruiz, María de Los Ángeles, Rodríguez Sanz, Marta

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