Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
Ghazale MahjoubParham HabibzadehHassan DastsoozMalihe MirzaeiArghavan KavosiLaila JamaliHaniyeh JavanmardiPegah KatibehMohammad Ali FaghihiSeyed Alireza DastgheibPublished in: BMC medical genetics (2019)
These patients had overlapping clinical features with tyrosinemia. MDS should be considered a differential diagnosis in patients presenting with signs and symptoms of tyrosinemia.