Publicacións nas que colabora con María José De Castro López (7)

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. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

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

2022

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  2. 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

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

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1