Balasubramaniam S - Search Results

1

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.

Wu Y, Balasubramaniam S, Rius R, Thorburn DR, Christodoulou J, Goranitis I. Wu Y, et al. Among authors: balasubramaniam s. Eur J Hum Genet. 2022 May;30(5):577-586. doi: 10.1038/s41431-021-00916-8. Epub 2021 Jun 8. Eur J Hum Genet. 2022. PMID: 34099885 Free PMC article.

2

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

3

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

4

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.

5

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

Duff RM, Shearwood AM, Ermer J, Rossetti G, Gooding R, Richman TR, Balasubramaniam S, Thorburn DR, Rackham O, Lamont PJ, Filipovska A. Duff RM, et al. Among authors: balasubramaniam s. Mitochondrion. 2015 Nov;25:113-9. doi: 10.1016/j.mito.2015.10.008. Epub 2015 Oct 30. Mitochondrion. 2015. PMID: 26524491 Free article.

6

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.

7

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics; Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. Heimer G, et al. Among authors: balasubramaniam s. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3. Am J Hum Genet. 2016. PMID: 27817865 Free PMC article.

8

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

9

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

10

Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

Ryder B, Moore F, Mitchell A, Thompson S, Christodoulou J, Balasubramaniam S. Ryder B, et al. Among authors: balasubramaniam s. JIMD Rep. 2018;40:77-83. doi: 10.1007/8904_2017_65. Epub 2017 Oct 21. JIMD Rep. 2018. PMID: 29052812 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

371 results

Search Page