يعرض 1 - 10 نتائج من 154 نتيجة بحث عن '"Pineda, Mercè"', وقت الاستعلام: 1.18s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

    المؤلفون: Paredes-Fuentes, Abraham J., Cesar, Sergi, Montero, Raquel, Latre, Cristina, Genovès, Jordi, Martorell, Loreto, Cuadras, Daniel, Colom, Helena, Pineda, Mercè, del Mar O’Callaghan, Maria, Sarquella-Brugada, Georgia, Darling, Alejandra, Artuch, Rafael

    المصدر: In Biomedicine & Pharmacotherapy November 2021 143

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  2. 2
    دورية أكاديمية
    Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    المؤلفون: Gónzalez-Meneses, AntonioAff1, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón

    المصدر: Orphanet Journal of Rare Diseases. 16(1)

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  3. 3
    كتاب إلكتروني
    Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

    المؤلفون: Yubero, DèliaAff7, Montero, RaquelAff7, Aff9, O’Callaghan, MarAff7, Pineda, MercèAff7, Meavilla, SilviaAff7, Delgadillo, VeronicaAff7, Sierra, CristinaAff7, Altimira, LauraAff7, Navas, PlácidoAff9, Aff10, Pope, SimonAff11, Oppenheim, MarcusAff11, Neergheen, VirunaAff11, Ghosh, ArunabhaAff12, Mills, PhillipaAff13, Clayton, PeterAff13, Footitt, EmmaAff13, Cleary, MaureenAff13, Hargreaves, IainAff11, Jones, Simon A.Aff12, Heales, SimonAff8, Aff11, Aff13, Artuch, RafaelAff7, Aff9

    المساهمون: Morava, Eva, editorAff1, Baumgartner, Matthias, editorAff2, Patterson, Marc, editorAff3, Rahman, Shamima, editorAff4, Zschocke, Johannes, editorAff5, Peters, Verena, editorAff6

    المصدر: JIMD Reports, Volume 25. 25:1-7

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  4. 4
    دورية أكاديمية
    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    المؤلفون: Montero, RaquelAff1, Aff2, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, JaumeAff1, Aff2, O’Callaghan, Maria del MarAff1, Aff2, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, JulioAff2, Aff4, Ruiz-Pesini, EduardoAff2, Aff4, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, AngelsAff1, Aff2, Navas, PlacidoAff2, Aff6, Hargreaves, IainAff5, Aff7, Artuch, RafaelAff1, Aff2

    المصدر: Scientific Reports. 9(1)

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  5. 5
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  6. 6
    دورية أكاديمية
    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    المؤلفون: Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, JudithAff1, Aff3, Aff4, Rett Working Group

    المصدر: Scientific Reports. 9(1)

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  7. 7
    دورية أكاديمية
    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

    المؤلفون: Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel

    المصدر: Human Genetics. December 2016 135(12):1343-1354

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  8. 8
    دورية أكاديمية
    Miglustat in Niemann-Pick disease type C patients: a review

    المؤلفون: Pineda, MercèAff1, Aff4, Walterfang, MarkAff2, Patterson, Marc C.Aff3

    المصدر: Orphanet Journal of Rare Diseases. 13(1)

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  9. 9
    دورية أكاديمية
    Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

    المؤلفون: Tristán-Noguero, Alba, Díez, Héctor, Jou, Cristina, Pineda, Mercè, Ormazábal, Aida, Sánchez, Aurora, Artuch, Rafael, Garcia-Cazorla, Àngels

    المصدر: Metabolic Brain Disease. June 2016 31(3):705-709

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  10. 10
    دورية أكاديمية
    InterRett, a model for international data collection in a rare genetic disorder

    المؤلفون: Louise, Sandra, Fyfe, Sue, Bebbington, Ami, Bahi-Buisson, Nadia, Anderson, Alison, Pineda, Mercé, Percy, Alan, Zeev, Bruria Ben, Wu, Xi Ru, Bao, Xinhua, Leod, Patrick Mac, Armstrong, Judith, Leonard, Helen

    المصدر: In Research in Autism Spectrum Disorders 2009 3(3):639-659

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