Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Fe (41)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2023

  1. Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

    Nutrients, Vol. 15, Núm. 16

  2. Care levels in neonatal units in Spain: An updated vision for a new reality

    Anales de Pediatria, Vol. 98, Núm. 4, pp. 301-307

  3. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  2. Postauthorization safety study of betaine anhydrous

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733

  3. Recommendations for transfusion of blood products in neonatology

    Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8

  4. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

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

    Frontiers in Pediatrics, Vol. 10

  6. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

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. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  4. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  2. The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants

    Journal of Human Lactation, Vol. 36, Núm. 2, pp. 245-253

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  3. Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800

  4. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11