TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
Chaya N. Murali, Claudia Soler‐Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla, Fernando Scaglia, Rebecca Ganetzky
Topics & Concepts
Lactic acidosisAcetylcysteineMedicineCysteineMitochondrial diseaseCardiomyopathyDiseaseInternal medicineBioinformaticsGastroenterologyMitochondrial DNAPediatricsGeneBiologyGeneticsBiochemistryHeart failureEnzymeAntioxidantMetabolism and Genetic DisordersMitochondrial Function and PathologyRNA modifications and cancer