Angela Y. Arias

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 23 publications

Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals.

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

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Journal: Neurobiology of disease

Published: February 19, 2025

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.

Journal: Antioxidants (Basel, Switzerland)

Published: June 21, 2024

Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

Journal: Clinical chemistry

Published: January 19, 2024

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Journal: Clinical chemistry and laboratory medicine

Published: November 14, 2023

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Journal: International journal of molecular sciences

Published: October 31, 2023

Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.

Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.

Journal: Nature communications

Published: October 10, 2023

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Published: March 22, 2023

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Journal: Human mutation

Published: October 10, 2018

An antisense oligonucleotide targeting TGF-β2 inhibits lung metastasis and induces CD86 expression in tumor-associated macrophages.

An antisense oligonucleotide targeting TGF-β2 inhibits lung metastasis and induces CD86 expression in tumor-associated macrophages.

Journal: Annals of oncology : official journal of the European Society for Medical Oncology

Published: September 16, 2017

Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

Journal: JIMD reports

Published: November 28, 2016

Treatment of genetic defects of thiamine transport and metabolism.

Treatment of genetic defects of thiamine transport and metabolism.

Journal: Expert review of neurotherapeutics

Published: May 19, 2016

Showing 1-12 of 23

Last Updated: 09/26/2026