-
Balasubramaniam, S, Duley, JA, Christodoulou, J.
Inborn errors of pyrimidine metabolism: clinical update and therapy..
J Inherit Metab Dis
37(5)
:
687 -698
2014
view publication
-
Trakadis, YJ, Alfares, A, Bodamer, OA, Buyukavci, M, Christodoulou, J, Connor, P, Glamuzina, E, Gonzalez-Fernandez, F, Bibi, H, Echenne, B, et al.
Update on transcobalamin deficiency: clinical presentation, treatment and outcome..
J Inherit Metab Dis
37(3)
:
461 -473
2014
view publication
-
Ho, G, Christodoulou, J.
Phenylketonuria: translating research into novel therapies..
Transl Pediatr
3(2)
:
49 -62
2014
view publication
-
Menezes, MJ, Riley, LG, Christodoulou, J.
Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine..
Biochim Biophys Acta
1840(4)
:
1368 -1379
2014
view publication
-
Gold, WA, Williamson, SL, Kaur, S, Hargreaves, IP, Land, JM, Pelka, GJ, Tam, PPL, Christodoulou, J.
Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype..
Mitochondrion
15:
10 -17
2014
view publication