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Riley, LG, Cowley, MJ, Gayevskiy, V, Roscioli, T, Thorburn, DR, Prelog, K, Bahlo, M, Sue, CM, Balasubramaniam, S, Christodoulou, J.
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders..
J Inherit Metab Dis
40(2)
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261 -269
2017
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Torraco, A, Bianchi, M, Verrigni, D, Gelmetti, V, Riley, L, Niceta, M, Martinelli, D, Montanari, A, Guo, Y, Rizza, T, et al.
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia..
Clin Genet
91(3)
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441 -447
2017
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Balasubramaniam, S, Lewis, B, Mock, DM, Said, HM, Tarailo-Graovac, M, Mattman, A, van Karnebeek, CD, Thorburn, DR, Rodenburg, RJ, Christodoulou, J.
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)..
JIMD Rep
33:
111
2017
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Alodaib, A, Sobreira, N, Gold, WA, Riley, LG, Van Bergen, NJ, Wilson, MJ, Bennetts, B, Thorburn, DR, Boehm, C, Christodoulou, J.
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease..
Eur J Hum Genet
25(1)
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79 -84
2017
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Nafisinia, M, Guo, Y, Dang, X, Li, J, Chen, Y, Zhang, J, Lake, NJ, Gold, WA, Riley, LG, Thorburn, DR, et al.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder..
JIMD Rep
32:
117 -124
2017
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