-
Ogle, RF, Christodoulou, J, Fagan, E, Blok, RB, Kirby, DM, Seller, KL, Dahl, H-HM, Thorburn, DR. Mitochondrial myopathy with tRNA Leu(UUR) mutation and complex I deficiency responsive to riboflavin.
The Journal of Pediatrics
130(1)
:
138 -145
1997
view publication
-
De Greef, E, Christodoulou, J, Alexander, IE, Shun, A, O’Loughlin, EV, Thorburn, DR, Jermyn, V, Stormon, MO. Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients.
4:
5 -11
2011
view publication
-
Thorburn, DR, Chow, CW, Kirby, DM. Respiratory chain enzyme analysis in muscle and liver.
Mitochondrion
4(5-6)
:
363 -375
2004
view publication
-
Mowat, D, Kirby, DM, Kamath, KR, Kan, A, Thorburn, DR, Christodoulou, J. Respiratory chain complex III deficiency with pruritus: A novel vitamin responsive clinical feature.
The Journal of Pediatrics
134(3)
:
352 -354
1999
view publication
-
Akesson, LS, Eggers, S, Chong, B, Hunter, MF, Krzesinski, E, Brown, NJ, Tan, TY, Richmond, C, Thorburn, DR, Christodoulou, J, et al. Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care.
Pathology
51:
s118 -s119
2019
view publication