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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Larson AA, et al. Among authors: balasubramaniam s. Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4. Mitochondrion. 2019. PMID: 29307858 Free PMC article.
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Balasubramaniam S, et al. JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. JIMD Rep. 2017. PMID: 29076057 Free PMC article. No abstract available.
Disorders of riboflavin metabolism.
Balasubramaniam S, Christodoulou J, Rahman S. Balasubramaniam S, et al. J Inherit Metab Dis. 2019 Jul;42(4):608-619. doi: 10.1002/jimd.12058. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30680745 Review.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: balasubramaniam s. Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21. Genet Med. 2020. PMID: 32313153 Free article.
371 results