Luis J. Echevarria-Aldamiz

Santiago De Compostela, GA, Spain

Last Updated: 09/26/2026

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Found 61 publications

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.

Journal: Molecular genetics and metabolism reports

Published: July 25, 2025

Editorial: Nutritional management of patients with inborn errors of metabolism.

Editorial: Nutritional management of patients with inborn errors of metabolism.

Journal: Frontiers in nutrition

Published: November 06, 2024

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence.

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence.

Journal: Nutrients

Published: February 04, 2024

Postauthorization safety study of betaine anhydrous.

Postauthorization safety study of betaine anhydrous.

Journal: Journal of inherited metabolic disease

Published: January 14, 2022

Treatment adherence in tyrosinemia type 1 patients.

Treatment adherence in tyrosinemia type 1 patients.

Journal: Orphanet journal of rare diseases

Published: March 14, 2021

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

Journal: Mitochondrion

Published: July 07, 2020

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Journal: Journal of inherited metabolic disease

Published: April 03, 2020

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco.

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco.

Journal: Clinical laboratory

Published: March 13, 2020

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Journal: Journal of inherited metabolic disease

Published: February 07, 2020

Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening.

Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: January 28, 2020

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.

Journal: Medicine

Published: October 03, 2019

New variants in Spanish Niemann-Pick type c disease patients.

New variants in Spanish Niemann-Pick type c disease patients.

Journal: Molecular biology reports

Published: August 27, 2019

Showing 1-12 of 61

Last Updated: 09/26/2026