Found: 8

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  • Plasma coenzyme Q<sub>10</sub> status is impaired in selected genetic conditions.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37542-2
    By:
    • Montero, Raquel;
    • Yubero, Delia;
    • Salgado, Maria C.;
    • González, María Julieta;
    • Campistol, Jaume;
    • O'Callaghan, Maria del Mar;
    • Pineda, Mercè;
    • Delgadillo, Verónica;
    • Maynou, Joan;
    • Fernandez, Guerau;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo;
    • Meavilla, Silvia;
    • Neergheen, Viruna;
    • García-Cazorla, Angels;
    • Navas, Placido;
    • Hargreaves, Iain;
    • Artuch, Rafael
    Publication type:
    Article

  • Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
    By:
    • Tenorio‐Castaño, Jair Antonio;
    • Arias, Pedro;
    • Fernández‐Jaén, Alberto;
    • Lay‐Son, Guillermo;
    • Bueno‐Lozano, Gloria;
    • Bayat, Allan;
    • Faivre, Laurence;
    • Gallego, Natalia;
    • Ramos, Sergio;
    • Butler, Kameryn M.;
    • Morel, Chantal;
    • Hadjiyannakis, Stasia;
    • Lespinasse, James;
    • Tran‐Mau‐Them, Frederic;
    • Santos‐Simarro, Fernando;
    • Pinson, Lucile;
    • Martínez‐Monseny, Antonio Federico;
    • O'Callaghan Cord, María del Mar;
    • Álvarez, Sara;
    • Stolerman, Elliot S.
    Publication type:
    Article

  • Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome.

    Published in:
    PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068851
    By:
    • Duarte, Sofia Temudo;
    • Armstrong, Judith;
    • Roche, Ana;
    • Ortez, Carlos;
    • Pérez, Ana;
    • O’Callaghan, Maria del Mar;
    • Pereira, Antonina;
    • Sanmartí, Francesc;
    • Ormazábal, Aida;
    • Artuch, Rafael;
    • Pineda, Mercedes;
    • García-Cazorla, Angels
    Publication type:
    Article

  • The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    Published in:
    Scientific Reports, 2017, v. 7, n. 1, p. 1, doi. 10.1038/s41598-017-11620-3
    By:
    • Vidal, Silvia;
    • Brandi, Núria;
    • Pacheco, Paola;
    • Gerotina, Edgar;
    • Blasco, Laura;
    • Trotta, Jean-Rémi;
    • Derdak, Sophia;
    • del Mar O’Callaghan, Maria;
    • Garcia-Cazorla, Àngels;
    • Pineda, Mercè;
    • Armstrong, Judith;
    • Aguirre, Francisco Javier;
    • Aleu, Montserrat;
    • Alonso, Xènia;
    • Alsius, Mercè;
    • Inmaculada Amorós, Maria;
    • Antiñolo, Guillermo;
    • Aquino, Lourdes;
    • Arellano, Carmen;
    • Arriola, Gema
    Publication type:
    Article

  • Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

    Published in:
    2017
    By:
    • Andrade-Campos, Marcio;
    • Alfonso, Pilar;
    • Irun, Pilar;
    • Armstrong, Judith;
    • Calvo, Carmen;
    • Dalmau, Jaime;
    • Domingo, Maria-Rosario;
    • Barbera, Jose-Luis;
    • Cano, Horacio;
    • Fernandez-Galán, Maria-Angeles;
    • Franco, Rafael;
    • Gracia, Inmaculada;
    • Gracia-Antequera, Miguel;
    • Ibañez, Angela;
    • Lendinez, Francisco;
    • Madruga, Marcos;
    • Martin-Hernández, Elena;
    • del Mar O'Callaghan, Maria;
    • del Soto, Alberto Pérez;
    • del Prado, Yolanda Ruiz
    Publication type:
    journal article

  • Natural history of Sanfilippo syndrome in Spain.

    Published in:
    2013
    By:
    • Delgadillo, Verónica;
    • O'Callaghan, Maria del;
    • Gort, Laura;
    • Coll, Maria Josep;
    • Pineda, Mercedes;
    • O'Callaghan, Maria del Mar
    Publication type:
    journal article

  • Genistein supplementation in patients affected by Sanfilippo disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1039, doi. 10.1007/s10545-011-9342-4
    By:
    • Delgadillo, Verónica;
    • O'Callaghan, Maria del Mar;
    • Artuch, Rafael;
    • Montero, Raquel;
    • Pineda, Mercedes
    Publication type:
    Article

  • Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    Published in:
    2021
    By:
    • Vidal, Silvia;
    • Brandi, Núria;
    • Pacheco, Paola;
    • Gerotina, Edgar;
    • Blasco, Laura;
    • Trotta, Jean-Rémi;
    • Derdak, Sophia;
    • del Mar O'Callaghan, Maria;
    • Garcia-Cazorla, Àngels;
    • Pineda, Mercè;
    • Armstrong, Judith;
    • Rett Working Group;
    • Aguirre, Francisco Javier;
    • Aleu, Montserrat;
    • Alonso, Xènia;
    • Alsius, Mercè;
    • Inmaculada Amorós, Maria;
    • Antiñolo, Guillermo;
    • Aquino, Lourdes;
    • Arellano, Carmen
    Publication type:
    Correction Notice