Olatz Ugarteburu

Mutations in<i>TRAPPC11</i>are associated with a congenital disorder of glycosylation

Leslie Matalonga, Miren Bravo, Carla Serra‐Peinado et al. · Human Mutation · 2016 · 43 citations · Full text

Abnormal Glycosylation, Genetics, Glycobiology +17

Mutations in <i>TIMM50</i> cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Frederic Tort, Olatz Ugarteburu, Laura Texidó et al. · Human Mutation · 2019 · 27 citations

Genome Instability, Timm50 Deficiency, Timm50 Protein +13

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas et al. · Journal of Molecular Diagnostics · 2022 · 27 citations · Full text

Lysine Restriction and Pyridoxal Phosphate Administration in a <i>NADK2</i> Patient

Frederic Tort, Olatz Ugarteburu, María Ángeles Torres et al. · PEDIATRICS · 2016 · 26 citations · Full text

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction

Mariona Guitart‐Mampel, Anna González-Tendero, Sergio Niñerola et al. · Biochimica et Biophysica Acta (BBA) - General Subjects · 2018 · 17 citations

Genetics, Fetal Medicine, Intrauterine Growth Restriction +16