Foto de ARANTZAZU

ARANTZAZU
ARZA RUESGA

Profile Publications Collaboration

Publications (6) ARANTZAZU ARZA RUESGA publications

2026

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome
Mitochondrion, Vol. 86

2025

Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease
Molecular Genetics and Metabolism Reports, Vol. 43

2021

Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
Urine phenylacetylglutamine determination in patients with hyperphenylalaninemia
Journal of Clinical Medicine, Vol. 10, Núm. 16

2012

Estudio de estabilidad de las concentraciones de cortisol, 25-hidroxivitamina D y corticotropina (ACTH)
Revista del Laboratorio Clinico, Vol. 5, Núm. 2, pp. 68-74

2010

Cistoadenoma hepatobiliar y elevación progresiva del marcador tumoral CA 19.9
Revista del laboratorio clínico, Vol. 3, Núm. 1, pp. 37-39