-
Christodoulou, J. Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn..
The Southeast Asian Journal of Tropical Medicine and Public Health
34 Suppl 3:
189 -197
2003
view publication
-
Tatuch, Y, Christodoulou, J, Feigenbaum, A, Clarke, JT, Wherret, J, Smith, C, Rudd, N, Petrova-Benedict, R, Robinson, BH. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high..
American Journal of Human Genetics
50(4)
:
852 -858
1992
view publication
-
Tumer, Z, Horn, N, Tonnesen, T, Christodoulou, J, Clarke, JTR, Sarkar, B. Gene symbol: ATP7A. Disease: Menkes disease..
Human Genetics
114(6)
:
606
2004
view publication
-
Fehr, S, Wong, K, Chin, R, Williams, S, de Klerk, N, Forbes, D, Krishnaraj, R, Christodoulou, J, Downs, J, Leonard, H. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Neurology
87(21)
:
2206 -2213
2016
view publication
-
Zeev, BB, Bebbington, A, Ho, G, Leonard, H, de Klerk, N, Gak, E, Vecksler, M, Christodoulou, J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.
Neurology
72(14)
:
1242 -1247
2009
view publication