-
Rahman, S, Blok, RB, Dahl, HH, Danks, DM, Kirby, DM, Chow, CW, Christodoulou, J, Thorburn, DR.
Leigh syndrome: clinical features and biochemical and DNA abnormalities..
Ann Neurol
39(3)
:
343 -351
1996
view publication
-
Worthington, S, Christodoulou, J, Wilcken, B, Peat, B.
Pregnancy and argininosuccinic aciduria..
J Inherit Metab Dis
19(5)
:
621 -623
1996
view publication
-
Tümer, Z, Horn, N, Tønnesen, T, Christodoulou, J, Clarke, JT, Sarkar, B.
Early copper-histidine treatment for Menkes disease..
Nat Genet
12(1)
:
11 -13
1996
view publication
-
Poulos, A, Christodoulou, J, Chow, CW, Goldblatt, J, Paton, BC, Orii, T, Suzuki, Y, Shimozawa, N.
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group..
J Pediatr
127(4)
:
596 -599
1995
view publication
-
Smooker, PM, Christodoulou, J, McInnes, RR, Cotton, RG.
A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect..
J Med Genet
32(3)
:
220 -223
1995
view publication