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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays..
Orphanet J Rare Dis
12(1)
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68
2017
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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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2017
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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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2017
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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:
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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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2017
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