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Lista de obras de Olatz Ugarteburu

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

scientific article published on 02 January 2020

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

artículo científico publicado en 2020

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

scientific article published on 01 December 2018

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

artículo científico publicado en 2020

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