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Wilson, CJ, Myer, M, Darlow, BA, Stanley, T, Thomson, G, Baumgartner, ER, Kirby, DM, Thorburn, DR.
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates..
J Pediatr
147(1)
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115 -118
2005
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Valianpour, F, Mitsakos, V, Schlemmer, D, Towbin, JA, Taylor, JM, Ekert, PG, Thorburn, DR, Munnich, A, Wanders, RJA, Barth, PG, et al.
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis..
J Lipid Res
46(6)
:
1182 -1195
2005
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Davidzon, G, Mancuso, M, Ferraris, S, Quinzii, C, Hirano, M, Peters, HL, Kirby, D, Thorburn, DR, DiMauro, S.
POLG mutations and Alpers syndrome..
Ann Neurol
57(6)
:
921 -923
2005
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Mancuso, M, Ferraris, S, Pancrudo, J, Feigenbaum, A, Raiman, J, Christodoulou, J, Thorburn, DR, DiMauro, S.
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome..
Arch Neurol
62(5)
:
745 -747
2005
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Biggin, A, Henke, R, Bennetts, B, Thorburn, DR, Christodoulou, J.
Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography..
Mol Genet Metab
84(1)
:
61 -74
2005
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