Shanti Balasubramaniam

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 4

Top Topics

Temporal Lobe Epilepsy

Congenital Heart Disease

Top Venues

Internal medicine journal

This page only lists publications with an associated author ORCID identifier.

Publications

Wui Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, Nicole Graf, David R Thorburn, Robert McFarland, Christopher Troedson
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant. JIMD reports 63 (6) (2022)
Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, Catherine Bonifant, John Chrisodoulou, David John Coman, Karen Crawley, Fabienne Edema-Hildebrand, Carolyn Jane Ellaway, Roula Ghaoui, Maina Kava, Lisa S Kearns, Joy Lee, Christina Liang, David A Mackey, Sean Murray, Merrilee Needham, Rocio Rius, Jacqui Russell, Nicholas J C Smith, Dominic Thyagarajan, Christine Wools
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal medicine journal (2021)
Maina P Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency. JIMD reports 54 (1) (2020)
Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt, Mariël A M van den Brand, Oksana Lapina, Yngve T Bliksrud, Mari A Kulseth, Silja S Amundsen, Terje R Selberg, Marion Ybema-Antoine, Omar A Z Tutakhel, Lawrence Greed, David R Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard J T Rodenburg
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Human mutation 42 (2) (2020)