Found: 8

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  • BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
    By:
    • Tangeraas, Trine;
    • Constante, Juliana R;
    • Backe, Paul Hoff;
    • Oyarzábal, Alfonso;
    • Neugebauer, Julia;
    • Weinhold, Natalie;
    • Boemer, Francois;
    • Debray, François G;
    • Ozturk-Hism, Burcu;
    • Evren, Gumus;
    • Tuba, Eminoglu F;
    • Ummuhan, Oncul;
    • Footitt, Emma;
    • Davison, James;
    • Martinez, Caroline;
    • Bueno, Clarissa;
    • Machado, Irene;
    • Rodríguez-Pombo, Pilar;
    • Al-Sannaa, Nouriya;
    • Santos, Mariela De Los
    Publication type:
    Article

  • Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5045, doi. 10.3390/jcm11175045
    By:
    • Martín-Hernández, Elena;
    • Quijada-Fraile, Pilar;
    • Correcher, Patricia;
    • Meavilla, Silvia;
    • Sánchez-Pintos, Paula;
    • de las Heras Montero, Javier;
    • Blasco-Alonso, Javier;
    • Dougherty, Lucy;
    • Marquez, Ana;
    • Peña-Quintana, Luis;
    • Cañedo, Elvira;
    • García-Jimenez, María Concepción;
    • Moreno Lozano, Pedro Juan;
    • Murray Hurtado, Mercedes;
    • Camprodon Gómez, María;
    • Barrio-Carreras, Delia;
    • de los Santos, Mariela;
    • del Toro, Mireia;
    • Couce, María L.;
    • Vitoria Miñana, Isidro
    Publication type:
    Article

  • Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02793-4
    By:
    • Pajares, Sonia;
    • Arranz, Jose Antonio;
    • Ormazabal, Aida;
    • Toro, Mireia Del;
    • García-Cazorla, Ángeles;
    • Navarro-Sastre, Aleix;
    • López, Rosa María;
    • Meavilla, Silvia María;
    • de los Santos, Mariela Mercedes;
    • García-Volpe, Camila;
    • de Aledo-Castillo, Jose Manuel González;
    • Argudo, Ana;
    • Marín, Jose Luís;
    • Carnicer, Clara;
    • Artuch, Rafael;
    • Tort, Frederic;
    • Gort, Laura;
    • Fernández, Rosa;
    • García-Villoria, Judit;
    • Ribes, Antonia
    Publication type:
    Article

  • Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45674-2
    By:
    • Castells, Alba-Aina;
    • Gueraldi, Daniela;
    • Balada, Rafel;
    • Tristán-Noguero, Alba;
    • Cortès-Saladelafont, Elisenda;
    • Ramos, Federico;
    • Meavilla, Silvia;
    • De Los Santos, Mariela;
    • Garcia-Volpe, Camila;
    • Colomé, Roser;
    • Couce, Maria Luz;
    • Sierra, Cristina;
    • Ormazábal, Aida;
    • Batllori, Marta;
    • Artuch, Rafael;
    • Armstrong, Judith;
    • Alcántara, Soledad;
    • Garcia-Cazorla, Àngels
    Publication type:
    Article

  • Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.

    Published in:
    2021
    By:
    • Pajares, Sonia;
    • Arranz, Jose Antonio;
    • Ormazabal, Aida;
    • Del Toro, Mireia;
    • García-Cazorla, Ángeles;
    • Navarro-Sastre, Aleix;
    • López, Rosa María;
    • Meavilla, Silvia María;
    • de los Santos, Mariela Mercedes;
    • García-Volpe, Camila;
    • de Aledo-Castillo, Jose Manuel González;
    • Argudo, Ana;
    • Marín, Jose Luís;
    • Carnicer, Clara;
    • Artuch, Rafael;
    • Tort, Frederic;
    • Gort, Laura;
    • Fernández, Rosa;
    • García-Villoria, Judit;
    • Ribes, Antonia
    Publication type:
    journal article

  • Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 5, p. 987, doi. 10.1002/ana.26758
    By:
    • Domínguez‐Carral, Jana;
    • Ludlam, William Grant;
    • Junyent Segarra, Mar;
    • Fornaguera Marti, Montserrat;
    • Balsells, Sol;
    • Muchart, Jordi;
    • Čokolić Petrović, Dunja;
    • Espinoza, Iván;
    • Ortigoza‐Escobar, Juan Dario;
    • Martemyanov, Kirill A.;
    • Armstrong, Judith;
    • Blanco‐Lago, Raquel;
    • Bou, Rosa;
    • Cáceres‐Marzal, Cristina;
    • Cancho‐Candela, Ramón;
    • Candela, Santiago;
    • Darling, Alejandra;
    • De Los Santos, Mariela Mercedes;
    • García‐Cazorla, Angels;
    • Martí‐Carrera, Itxaso
    Publication type:
    Article

  • Exploring Plasma Coenzyme Q 10 Status in Paediatric Dyslipidaemia.

    Published in:
    Antioxidants, 2024, v. 13, n. 8, p. 966, doi. 10.3390/antiox13080966
    By:
    • Minguez, Beatriz;
    • de Los Santos, Mariela;
    • Garcia-Volpe, Camila;
    • Molera, Cristina;
    • Paredes-Fuentes, Abraham J.;
    • Oliva, Clara;
    • Arias, Angela;
    • Rodriguez-Gonzalez, Helena;
    • Yubero, Delia;
    • Tondo, Mireia;
    • Santos-Ocaña, Carlos;
    • Meavilla, Silvia;
    • Artuch, Rafael
    Publication type:
    Article

  • Paediatric celiac patients carrying the HLA-DR7-DQ2 and HLA-DR3-DQ2 haplotypes display small clinical differences.

    Published in:
    2014
    By:
    • Delgado, Juan F;
    • Amengual, María J;
    • Veraguas, Ana;
    • Rodríguez, Encarnación;
    • de Los Santos, Mariela M;
    • Guallarte, María P
    Publication type:
    Journal Article