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Yaplito-Lee, J, Weintraub, R, Jamsen, K, Chow, CW, Thorburn, DR, Boneh, A.
Cardiac manifestations in oxidative phosphorylation disorders of childhood..
J Pediatr
150(4)
:
407 -411
2007
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Loupatty, FJ, Clayton, PT, Ruiter, JPN, Ofman, R, Ijlst, L, Brown, GK, Thorburn, DR, Harris, RA, Duran, M, Desousa, C, et al.
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration..
Am J Hum Genet
80(1)
:
195 -199
2007
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Kirby, DM, Thorburn, DR, Turnbull, DM, Taylor, RW.
Biochemical assays of respiratory chain complex activity..
80:
93 -119
2007
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van Werkhoven, MA, Thorburn, DR, Gedeon, AK, Pitt, JJ.
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome..
J Lipid Res
47(10)
:
2346 -2351
2006
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Sugiana, C, Dunning, CJR, Lazarou, M, McKenzie, M, Connelly, AA, Fletcher, JM, Thorburn, DR, Ryan, MT.
Mutations in the assembly factor NDUFAF1 are a novel cause of mitochondrial Complex I deficiency.
Mitochondrion
6(5)
:
12
2006
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