Balasubramaniam S - Search Results

1

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C. Sue CM, et al. Among authors: balasubramaniam s. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19. Intern Med J. 2022. PMID: 34505344 Free PMC article.

2

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

Balasubramaniam S, Rudduck C, Bennetts B, Peters G, Wilcken B, Ellaway C. Balasubramaniam S, et al. Mol Genet Metab. 2010 Jan;99(1):34-41. doi: 10.1016/j.ymgme.2009.08.007. Mol Genet Metab. 2010. PMID: 19783189

3

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C. Balasubramaniam S, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S25-33. doi: 10.1007/s10545-009-9012-y. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049532

4

Inborn errors of purine metabolism: clinical update and therapies.

Balasubramaniam S, Duley JA, Christodoulou J. Balasubramaniam S, et al. J Inherit Metab Dis. 2014 Sep;37(5):669-86. doi: 10.1007/s10545-014-9731-6. Epub 2014 Jun 28. J Inherit Metab Dis. 2014. PMID: 24972650

5

Inborn errors of pyrimidine metabolism: clinical update and therapy.

Balasubramaniam S, Duley JA, Christodoulou J. Balasubramaniam S, et al. J Inherit Metab Dis. 2014 Sep;37(5):687-98. doi: 10.1007/s10545-014-9742-3. Epub 2014 Jul 17. J Inherit Metab Dis. 2014. PMID: 25030255

6

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S. Mordaunt DA, et al. Among authors: balasubramaniam s. Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899669 Review.

7

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;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. JIMD Rep. 2017. PMID: 27450367 Free PMC article.

8

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO. Nickerson SL, et al. Among authors: balasubramaniam s. J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15. J Pediatr Genet. 2016. PMID: 27617160 Free PMC article.

9

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: balasubramaniam s. J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19. J Inherit Metab Dis. 2017. PMID: 27995398

10

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Balasubramaniam S, et al. J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13. J Inherit Metab Dis. 2017. PMID: 28409271

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