Publications by the researcher in collaboration with María Luz Couce Pico (60)

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. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

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

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

  4. 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

  3. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

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

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

  3. Plasma proteomic analysis in morquio a disease

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

  4. Utility of gene panels for the diagnosis of inborn errors of metabolism in a metabolic reference center

    Genes, Vol. 12, Núm. 8

2020

  1. Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa

    Revista espanola de salud publica, Vol. 94

  2. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

    Genomics, Vol. 112, Núm. 2, pp. 1245-1256

2019

  1. Free-access copy-number variant detection tools for targeted next-generation sequencing data

    Mutation Research - Reviews in Mutation Research, Vol. 779, pp. 114-125

  2. 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

  3. Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

    Movement Disorders, Vol. 33, Núm. 6, pp. 992-999

  2. Carbohydrate status in patients with phenylketonuria

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

  3. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

  4. Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment

    Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432