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White, SL, Thorburn, DR, Christodoulou, J, Dahl, HH.
Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation..
Mol Diagn
3(2)
:
113 -117
1998
view publication
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Gregg, AR, Warman, AW, Thorburn, DR, O'Brien, WE.
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies..
J Inherit Metab Dis
21(4)
:
382 -390
1998
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Shanske, S, Kirby, D, Bruno, C, Garavaglia, B, Santorelli, FM, Xia, W, Krishna, S, Shield, L, Thorburn, DR, Zeviani, M, et al.
Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734.
Pediatric Research
43(Suppl 4)
:
127 -127
1998
view publication
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Yang, Z, Youil, R, Thorburn, D, Chow, CW, Cotton, RG, Baldwin, GS.
Absence of common trifunctional protein mutation in patients with Alpers disease..
J Inherit Metab Dis
20(6)
:
828 -830
1997
view publication
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Macreadie, IG, Thorburn, DR, Kirby, DM, Castelli, LA, de Rozario, NL, Azad, AA.
HIV-1 protein Vpr causes gross mitochondrial dysfunction in the yeast Saccharomyces cerevisiae..
FEBS Lett
410(2-3)
:
145 -149
1997
view publication