-
Chiong, MA, Carpenter, K, Christodoulou, J.
Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report..
J Inherit Metab Dis
30(3)
:
405
2007
view publication
-
Schindeler, S, Ghosh-Jerath, S, Thompson, S, Rocca, A, Joy, P, Kemp, A, Rae, C, Green, K, Wilcken, B, Christodoulou, J.
The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study..
Mol Genet Metab
91(1)
:
48 -54
2007
view publication
-
Archer, H, Evans, J, Leonard, H, Colvin, L, Ravine, D, Christodoulou, J, Williamson, S, Charman, T, Bailey, MES, Sampson, J, et al.
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation..
J Med Genet
44(2)
:
148 -152
2007
view publication
-
Chiong, MA, Sim, KG, Carpenter, K, Rhead, W, Ho, G, Olsen, RKJ, Christodoulou, J.
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency..
Mol Genet Metab
92(1-2)
:
109 -114
2007
view publication
-
Christodoulou, J, Craig, HJ, Walker, DC, Weaving, LS, Pearson, CE, McInnes, RR.
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites..
Hum Mutat
27(11)
:
1065 -1071
2006
view publication