Works by Mercedes Pardo


Results: 53
    1

    Hyperammonaemia as a cause of psychosis in an adolescent.

    Published in:
    2003
    By:
    • Bélanger-Quintana, Amaya;
    • Martínez-Pardo, Mercedes;
    • Pallarés, Esperanza;
    • Garc&iacutea;, María José;
    • Ugarte, Magdalena;
    • Wermuth, Benedict;
    • Torres, Julián;
    • Bélanger-Quintana, Amaya;
    • Martínez-Pardo, Mercedes;
    • García, María José;
    • Wermuth, Bendicht;
    • Torres, Julián;
    • Pallarés, Esperanza
    Publication type:
    journal article
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    Betaine anhydrous in homocystinuria: results from the RoCH registry.

    Published in:
    2019
    By:
    • Valayannopoulos, Vassili;
    • Dalmau, Jaime;
    • Peña-Quintana, Luis;
    • Rigalleau, Vincent;
    • Touati, Guy;
    • Aldamiz-Echevarria, Luis;
    • Cathebras, Pascal;
    • Gay, Claire;
    • Eyer, Didier;
    • Brunet, Dominique;
    • Damaj, Léna;
    • Dobbelaere, Dries;
    • Hiéronimus, Sylvie;
    • Levrat, Virginie;
    • Maillot, François;
    • Schiff, Manuel;
    • Guffon, Nathalie;
    • Nadjar, Yann;
    • García-Cazorla, Angels;
    • Martinez-Pardo Casanova, Mercedes
    Publication type:
    journal article
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    The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

    Published in:
    Journal of Human Genetics, 2006, v. 51, n. 4, p. 305, doi. 10.1007/s10038-006-0362-0
    By:
    • Urreizti, Roser;
    • Asteggiano, Carla;
    • Bermudez, Marta;
    • Córdoba, Alfonso;
    • Szlago, Mariana;
    • Grosso, Carola;
    • de Kremer, Raquel Dodelson;
    • Vilarinho, Laura;
    • D'Almeida, Vania;
    • Martínez-Pardo, Mercedes;
    • Peña-Quintana, Luís;
    • Dalmau, Jaime;
    • Bernal, Jaime;
    • Briceño, Ignacio;
    • Couce, María;
    • Rodés, Marga;
    • Vilaseca, Maria;
    • Balcells, Susana;
    • Grinberg, Daniel
    Publication type:
    Article
    16

    Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
    By:
    • Medrano, Celia;
    • Vega, Ana;
    • Navarrete, Rosa;
    • Ecay, M. Jesús;
    • Calvo, Rocío;
    • Pascual, Samuel Ignacio;
    • Ruiz‐Pons, Mónica;
    • Toledo, Laura;
    • García‐Jiménez, Inmaculada;
    • Arroyo, Ignacio;
    • Campo, Andrea;
    • Couce, M. Luz;
    • Domingo‐Jiménez, M. Rosario;
    • García‐Silva, M. Teresa;
    • González‐Gutiérrez‐Solana, Luis;
    • Hierro, Loreto;
    • Martín‐Hernández, Elena;
    • Martínez‐Pardo, Mercedes;
    • Roldán, Susana;
    • Tomás, Miguel
    Publication type:
    Article
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    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

    Published in:
    2016
    By:
    • Valayannopoulos, Vassili;
    • Baruteau, Julien;
    • Bueno Delgado, Maria;
    • Cano, Aline;
    • Couce, Maria L.;
    • Del Toro, Mireia;
    • Donati, Maria Alice;
    • Garcia-Cazorla, Angeles;
    • Gil-Ortega, David;
    • Gomez-de Quero, Pedro;
    • Guffon, Nathalie;
    • Hofstede, Floris C.;
    • Kalkan-Ucar, Sema;
    • Coker, Mahmut;
    • Lama-More, Rosa;
    • Martinez-Pardo Casanova, Mercedes;
    • Molina, Agustin;
    • Pichard, Samia;
    • Papadia, Francesco;
    • Rosello, Patricia
    Publication type:
    journal article
    20

    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
    By:
    • Martín-Hernández, Elena;
    • Aldámiz-Echevarría, Luis;
    • Castejón-Ponce, Esperanza;
    • Pedrón-Giner, Consuelo;
    • Couce, María Luz;
    • Serrano-Nieto, Juliana;
    • Pintos-Morell, Guillem;
    • Bélanger-Quintana, Amaya;
    • Martínez-Pardo, Mercedes;
    • García-Silva, María Teresa;
    • Quijada-Fraile, Pilar;
    • Vitoria-Miñana, Isidro;
    • Dalmau, Jaime;
    • Lama-More, Rosa A;
    • Bueno-Delgado, María Amor;
    • Toro-Riera, Mirella del;
    • García-Jiménez, Inmaculada;
    • Sierra-Córcoles, Concepción;
    • Ruiz-Pons, Mónica;
    • Peña-Quintana, Luis J
    Publication type:
    Article
    21

    Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

    Published in:
    2001
    By:
    • Campos, Yolanda;
    • García-Redondo, Alberto;
    • Fernández-Moreno, Miguel A.;
    • Martínez-Pardo, Mercedes;
    • Goda, Guillermo;
    • Rubio, Juan C.;
    • Martín, Miguel A.;
    • Del Hoyo, Pilar;
    • Cabello, Ana;
    • Bornstein, Belen;
    • Garesse, Rafael;
    • Arenas, Joaquín;
    • Campos, Y;
    • García-Redondo, A;
    • Fernández-Moreno, M A;
    • Martínez-Pardo, M;
    • Goda, G;
    • Rubio, J C;
    • Martín, M A;
    • del Hoyo, P
    Publication type:
    journal article
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    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
    By:
    • Martín‐Rivada, Álvaro;
    • Palomino Pérez, Laura;
    • Ruiz‐Sala, Pedro;
    • Navarrete, Rosa;
    • Cambra Conejero, Ana;
    • Quijada Fraile, Pilar;
    • Moráis López, Ana;
    • Belanger‐Quintana, Amaya;
    • Martín‐Hernández, Elena;
    • Bellusci, Marcello;
    • Cañedo Villaroya, Elvira;
    • Chumillas Calzada, Silvia;
    • García Silva, María Teresa;
    • Bergua Martínez, Ana;
    • Stanescu, Sinziana;
    • Martínez‐Pardo Casanova, Mercedes;
    • Ruano, Miguel L. F.;
    • Ugarte, Magdalena;
    • Pérez, Belén;
    • Pedrón‐Giner, Consuelo
    Publication type:
    Article
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    Ubiquitylation of MLKL at lysine 219 positively regulates necroptosis-induced tissue injury and pathogen clearance.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23474-5
    By:
    • Garcia, Laura Ramos;
    • Tenev, Tencho;
    • Newman, Richard;
    • Haich, Rachel O.;
    • Liccardi, Gianmaria;
    • John, Sidonie Wicky;
    • Annibaldi, Alessandro;
    • Yu, Lu;
    • Pardo, Mercedes;
    • Young, Samuel N.;
    • Fitzgibbon, Cheree;
    • Fernando, Winnie;
    • Guppy, Naomi;
    • Kim, Hyojin;
    • Liang, Lung-Yu;
    • Lucet, Isabelle S.;
    • Kueh, Andrew;
    • Roxanis, Ioannis;
    • Gazinska, Patrycja;
    • Sims, Martin
    Publication type:
    Article
    26

    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17452-6
    By:
    • Lee, Yu-Ri;
    • Khan, Kamal;
    • Armfield-Uhas, Kim;
    • Srikanth, Sujata;
    • Thompson, Nicola A.;
    • Pardo, Mercedes;
    • Yu, Lu;
    • Norris, Joy W.;
    • Peng, Yunhui;
    • Gripp, Karen W.;
    • Aleck, Kirk A.;
    • Li, Chumei;
    • Spence, Ed;
    • Choi, Tae-Ik;
    • Kwon, Soo Jeong;
    • Park, Hee-Moon;
    • Yu, Daseuli;
    • Do Heo, Won;
    • Mooney, Marie R.;
    • Baig, Shahid M.
    Publication type:
    Article
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    Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
    By:
    • Martín-Rivada, Álvaro;
    • Cambra Conejero, Ana;
    • Martín-Hernández, Elena;
    • Moráis López, Ana;
    • Bélanger-Quintana, Amaya;
    • Cañedo Villarroya, Elvira;
    • Quijada-Fraile, Pilar;
    • Bellusci, Marcelo;
    • Chumillas Calzada, Silvia;
    • Bergua Martínez, Ana;
    • Stanescu, Sinziana;
    • Martínez-Pardo Casanova, Mercedes;
    • Ruíz-Sala, Pedro;
    • Ugarte, Magdalena;
    • Pérez González, Belén;
    • Pedrón-Giner, Consuelo
    Publication type:
    Article
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    The UAN Colombian co-speech gesture corpus.

    Published in:
    Language Resources & Evaluation, 2021, v. 55, n. 3, p. 833, doi. 10.1007/s10579-021-09540-w
    By:
    • Herrera, David A.;
    • Rodríguez, Sonia;
    • Niño, Douglas;
    • Pardo-Martínez, Mercedes;
    • Giraldo, Verónica
    Publication type:
    Article
    38

    EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.76387
    By:
    • Randzavola, Lyra O.;
    • Mortimer, Paige M.;
    • Garside, Emma;
    • Dufficy, Elizabeth R.;
    • Schejtman, Andrea;
    • Roumelioti, Georgia;
    • Lu Yu;
    • Pardo, Mercedes;
    • Spirohn, Kerstin;
    • Tolley, Charlotte;
    • Brandt, Cordelia;
    • Harcourt, Katherine;
    • Nichols, Esme;
    • Nahorski, Mike;
    • Woods, Geoff;
    • Williamson, James C.;
    • Suresh, Shreehari;
    • Sowerby, John M.;
    • Matsumoto, Misaki;
    • Santos, Celio X. C.
    Publication type:
    Article
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    Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

    Published in:
    Nutrients, 2022, v. 14, n. 13, p. 2755, doi. 10.3390/nu14132755
    By:
    • Bélanger-Quintana, Amaya;
    • Arrieta Blanco, Francisco;
    • Barrio-Carreras, Delia;
    • Bergua Martínez, Ana;
    • Cañedo Villarroya, Elvira;
    • García-Silva, María Teresa;
    • Lama More, Rosa;
    • Martín-Hernández, Elena;
    • López, Ana Moráis;
    • Morales-Conejo, Montserrat;
    • Pedrón-Giner, Consuelo;
    • Quijada-Fraile, Pilar;
    • Stanescu, Sinziana;
    • Casanova, Mercedes Martínez-Pardo
    Publication type:
    Article
    44

    EDUCATION AND CLIMATE CHANGE. AN APPROACH FROM ESO.

    Published in:
    Athenea Digital (Revista de Pensamiento e Investigación Social), 2021, v. 21, n. 2, p. 1, doi. 10.5565/rev/athenea.2293
    By:
    • Caballero Guisado, Manuela;
    • Baigorri Agoiz, Artemio;
    • Pardo Buendía, Mercedes
    Publication type:
    Article
    45

    C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4
    By:
    • Moens, Thomas G.;
    • Niccoli, Teresa;
    • Wilson, Katherine M.;
    • Atilano, Magda L.;
    • Birsa, Nicol;
    • Gittings, Lauren M.;
    • Holbling, Benedikt V.;
    • Dyson, Miranda C.;
    • Thoeng, Annora;
    • Neeves, Jacob;
    • Glaria, Idoia;
    • Yu, Lu;
    • Bussmann, Julia;
    • Storkebaum, Erik;
    • Pardo, Mercedes;
    • Choudhary, Jyoti S.;
    • Fratta, Pietro;
    • Partridge, Linda;
    • Isaacs, Adrian M.
    Publication type:
    Article
    46

    CRISPR activation screen in mice identifies novel membrane proteins enhancing pulmonary metastatic colonisation.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01912-w
    By:
    • van der Weyden, Louise;
    • Harle, Victoria;
    • Turner, Gemma;
    • Offord, Victoria;
    • Iyer, Vivek;
    • Droop, Alastair;
    • Swiatkowska, Agnieszka;
    • Rabbie, Roy;
    • Campbell, Andrew D.;
    • Sansom, Owen J.;
    • Pardo, Mercedes;
    • Choudhary, Jyoti S.;
    • Ferreira, Ingrid;
    • Tullett, Mark;
    • Arends, Mark J.;
    • Speak, Anneliese O.;
    • Adams, David J.
    Publication type:
    Article
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