Rafael Artuch-Iriberri

Esplugues De Llobregat, CT 08950, Spain

Last Updated: 09/26/2026

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Found 185 publications

Improving the performance of biochemical genetic testing through external quality assessment.

Improving the performance of biochemical genetic testing through external quality assessment.

Journal: Clinical chemistry and laboratory medicine

Published: May 22, 2026

L-Ergothioneine Attenuates Nephrolithiasis by Modulating Redox Signaling and Mitochondrial Function in Cystine and Calcium Oxalate Models.

L-Ergothioneine Attenuates Nephrolithiasis by Modulating Redox Signaling and Mitochondrial Function in Cystine and Calcium Oxalate Models.

Journal: Antioxidants & redox signaling

Published: March 12, 2026

Equilibrative nucleoside transporter 1 deficiency protects against diet-induced MASLD and is stage-associated in human liver disease.

Equilibrative nucleoside transporter 1 deficiency protects against diet-induced MASLD and is stage-associated in human liver disease.

Journal: Metabolism: clinical and experimental

Published: January 21, 2026

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

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 20, 2025

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

Journal: The Journal of clinical investigation

Published: July 29, 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

Testing of a novel automated point-of-care analyzer for blood ammonium monitoring in a clinical setting.

Testing of a novel automated point-of-care analyzer for blood ammonium monitoring in a clinical setting.

Journal: Analytical and bioanalytical chemistry

Published: February 03, 2025

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Journal: Brain communications

Published: January 13, 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

Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV.

Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV.

Journal: International journal of molecular sciences

Published: May 23, 2024

Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia.

Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia.

Journal: The Journal of physiology

Published: April 11, 2024

Showing 1-12 of 185

Last Updated: 09/26/2026