Search Results - "Ecay, M. J."

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations by Pérez, B., Briones, P., Quelhas, D., Artuch, R., Vega, A. I., Quintana, E., Gort, L., Ecay, M. J., Matthijs, G., Ugarte, M., Pérez-Cerdá, C.

“…PMM2-CDG is an autosomal recessive disorder and the most frequent form of congenital disorder of N-glycosylation, with more than 100 mutations identified to…”
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Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa by Martín Hernández, E, Vega Pajares, A.I, Pérez González, B, Ecay Crespo, M.J, Leal Pérez, F, Manzanares López-Manzanares, J, Ugarte Pérez, M, Pérez-Cerdá Silvestre, C

“…Los defectos congénitos de la glucosilación (CDG, por sus siglas en inglés) son enfermedades genéticas, en general multisistémicas, de herencia autosómica…”
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Congenital disorder of glycosylation type 1b. Experience with mannose treatment by Martín Hernández, E, Vega Pajares, A I, Pérez González, B, Ecay Crespo, M J, Leal Pérez, F, Manzanares López-Manzanares, J, Ugarte Pérez, M, Pérez-Cerdá Silvestre, C

“…Congenital disorders of glycosylation (CDG) are recessively inherited multisystemic disorders resulting from several genetic defects affecting the assembly,…”
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