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Duley, JA, Christodoulou, J, de Brouwer, APM.
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?.
Nucleosides Nucleotides Nucleic Acids
30(12)
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1129 -1139
2011
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Menezes, MP, Ryan, MM, Thorburn, D, Christodoulou, JC, North, KN, Ouvrier, RA.
P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics.
Neuromuscular Disorders
21(9-10)
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690
2011
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Tucker, EJ, Hershman, SG, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation..
Cell Metab
14(3)
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428 -434
2011
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Alodaib, A, Carpenter, K, Wiley, V, Sim, K, Christodoulou, J, Wilcken, B.
An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples..
Ann Clin Biochem
48(Pt 5)
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468 -470
2011
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Riley, L, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Thorburn, D, Ryan, M, Giegé, R, Bahlo, M, et al.
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome.
Mitochondrion
11(4)
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670 -671
2011
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