Selvanathan A - Search Results

1

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: selvanathan a. Mol Genet Metab. 2022 Jan;135(1):63-71. doi: 10.1016/j.ymgme.2021.12.001. Epub 2021 Dec 8. Mol Genet Metab. 2022. PMID: 34991945

2

Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.

Selvanathan A, Ellaway C, Wilson C, Owens P, Shaw PJ, Bhattacharya K. Selvanathan A, et al. JIMD Rep. 2018;41:81-89. doi: 10.1007/8904_2018_104. Epub 2018 Apr 19. JIMD Rep. 2018. PMID: 29671225 Free PMC article.

3

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

Selvanathan A, Hertzog A, Lemberg DA, Ellaway C. Selvanathan A, et al. J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):208-210. doi: 10.1097/MPG.0000000000002716. J Pediatr Gastroenterol Nutr. 2020. PMID: 32265410

4

Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.

Hertzog A, Selvanathan A, Tolun AA, Parayil Sankaran B, Bhattacharya K. Hertzog A, et al. Among authors: selvanathan a. J Paediatr Child Health. 2021 Oct;57(10):1703-1706. doi: 10.1111/jpc.15365. Epub 2021 Feb 15. J Paediatr Child Health. 2021. PMID: 33586825 No abstract available.

5

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series.

Selvanathan A, Kinsella J, Moore F, Wynn R, Jones S, Shaw PJ, Wilcken B, Bhattacharya K. Selvanathan A, et al. JIMD Rep. 2021 May 5;61(1):3-11. doi: 10.1002/jmd2.12222. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485011 Free PMC article.

6

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Hertzog A, Selvanathan A, Halligan R, Fazio T, de Jong G, Bratkovic D, Bhattacharya K, Tolun AA, Bennetts B, Fisk K. Hertzog A, et al. Among authors: selvanathan a. JIMD Rep. 2022 Apr 12;63(4):271-275. doi: 10.1002/jmd2.12289. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822098 Free PMC article.

7

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Among authors: selvanathan a. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322

8

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Hertzog A, Selvanathan A, Pandithan D, Kim WT, Kava MP, Boneh A, Coman D, Tolun AA, Bhattacharya K. Hertzog A, et al. Among authors: selvanathan a. JIMD Rep. 2022 Sep 14;63(6):568-574. doi: 10.1002/jmd2.12332. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341175 Free PMC article.

9

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.

Hertzog A, Selvanathan A, Devanapalli B, Ho G, Bhattacharya K, Tolun AA. Hertzog A, et al. Among authors: selvanathan a. Transl Pediatr. 2022 Oct;11(10):1704-1716. doi: 10.21037/tp-22-105. Transl Pediatr. 2022. PMID: 36345452 Free PMC article. Review.

10

Intronic variants in inborn errors of metabolism: Beyond the exome.

Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: selvanathan a. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.

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