Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction
Katja K. Dumic, Darko Antičević, Jelena Petrinović-Dorešič, Tamara Žigman, Kamelija Žarković, Filip Rokić, Oliver Vugrek
Topics & Concepts
HypotoniaExome sequencingMitochondrial DNAMitochondrial diseaseDifferential diagnosisMedicineHeteroplasmyPediatricsInternal medicineMutationPathologyEndocrinologyGeneticsBiologyGeneCellular transport and secretionEndoplasmic Reticulum Stress and DiseasePolyamine Metabolism and Applications