Mariela M. De Los Santos
Barcelona, CT 08950, Spain
Last Updated: 09/26/2026
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Found 10 publications
Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals.
Journal: Clinical nutrition (Edinburgh, Scotland)
Published: October 21, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.
Journal: Nutrients
Published: March 06, 2025
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Journal: Antioxidants (Basel, Switzerland)
Published: June 21, 2024
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Journal: Orphanet journal of rare diseases
Published: July 13, 2023
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Journal: Journal of clinical medicine
Published: July 19, 2022
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Journal: Brain : a journal of neurology
Published: July 15, 2022
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Journal: Orphanet journal of rare diseases
Published: January 12, 2021
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Journal: Scientific reports
Published: March 01, 2019
Paediatric celiac patients carrying the HLA-DR7-DQ2 and HLA-DR3-DQ2 haplotypes display small clinical differences.
Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: November 13, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026