Found: 6

Select item for more details and to access through your institution.

  • Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

    Published in:
    Movement Disorders Clinical Practice, 2021, v. 8, p. S40, doi. 10.1002/mdc3.13304
    By:
    • Friedman, Jennifer;
    • Lucas‐Del‐Pozo, Sara;
    • Moreno‐Martinez, David;
    • Camprodon‐Gomez, Maria;
    • Moreno‐Martinez, Daniel;
    • Hernandez‐Vara, Jorge;
    • Kurian, Manju A.
    Publication type:
    Article

  • Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

    Published in:
    Movement Disorders Clinical Practice, 2021, v. 8, p. S37, doi. 10.1002/mdc3.13295
    By:
    • Lucas‐Del‐Pozo, Sara;
    • Moreno‐Martinez, David;
    • Camprodon‐Gomez, Maria;
    • Moreno‐Martinez, Daniel;
    • Hernández‐Vara, Jorge
    Publication type:
    Article

  • Giant Calcinosis in Dermatomyositis and Scleroderma Overlap.

    Published in:
    2020
    By:
    • Fernández‐Codina, Andreu;
    • Camprodon‐Gómez, Maria;
    • Pope, Janet E.
    Publication type:
    Case Study

  • Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

    Published in:
    Biomedicines, 2023, v. 11, n. 10, p. 2861, doi. 10.3390/biomedicines11102861
    By:
    • Stanescu, Sinziana;
    • Correcher Medina, Patricia;
    • del Castillo, Francisco J.;
    • Alonso Luengo, Olga;
    • Arto Millan, Luis Maria;
    • Belanger Quintana, Amaya;
    • Camprodon Gomez, Maria;
    • Diez Langhetée, Lydia;
    • Garcia Campos, Oscar;
    • Matas Garcia, Ana;
    • Perez-Moreno, Jimena;
    • Rubio Gribble, Barbara;
    • Visa-Reñé, Nuria;
    • Giraldo-Castellano, Pilar;
    • O'Callaghan Gordo, Mar
    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

  • Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 8, p. 1664, doi. 10.3390/jcm10081664
    By:
    • Carnicer-Cáceres, Clara;
    • Arranz-Amo, Jose Antonio;
    • Cea-Arestin, Cristina;
    • Camprodon-Gomez, Maria;
    • Moreno-Martinez, David;
    • Lucas-Del-Pozo, Sara;
    • Moltó-Abad, Marc;
    • Tigri-Santiña, Ariadna;
    • Agraz-Pamplona, Irene;
    • Rodriguez-Palomares, Jose F;
    • Hernández-Vara, Jorge;
    • Armengol-Bellapart, Mar;
    • del-Toro-Riera, Mireia;
    • Pintos-Morell, Guillem
    Publication type:
    Article