Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening
Ryan H. Peretz, Nicholas Ah Mew, Hilary J. Vernon, Rebecca Ganetzky
Topics & Concepts
HeteroplasmyNewborn screeningMedicineUrea cycleAsymptomaticCitrullineInternal medicineMitochondrial diseaseGastroenterologyPathologyPediatricsArginineGeneticsMitochondrial DNABiologyAmino acidGeneMetabolism and Genetic DisordersMitochondrial Function and PathologyGenomics and Rare Diseases