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  • 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