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A noncoding RNA modulator potentiates phenylalanine metabolism in mice
UploadHeterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
UploadExpanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
UploadSLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation
UploadDiagnosis of ‘possible’ mitochondrial disease: an existential crisis
UploadLong-term liver disease in methylmalonic and propionic acidemias
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