Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
Keywords: BN-PAGE, Blue Native PAGE; GRACILE, growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis, early death; IRP1, iron regulatory protein 1; IRP2, iron regulatory protein 2; FPN1, ferroportin 1; OXPHOS, oxidative phosphorylation; Qcr