Publicaciones en colaboración con investigadores/as de Universidade de Santiago de Compostela (9)

2024

  1. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

2022

  1. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

2021

  1. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  2. Plasma proteomic analysis in morquio a disease

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

2019

  1. Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

    International journal of molecular sciences, Vol. 20, Núm. 18

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

2010

  1. Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: Preliminary results of an improved DMB-based procedure

    Journal of Clinical Laboratory Analysis, Vol. 24, Núm. 3, pp. 149-153

2009

  1. The contributions of Louis i Woolf to the treatment, early diagnosis and understanding of phenylketonuria

    Journal of Medical Screening, Vol. 16, Núm. 4, pp. 205-211