Browsing by Author Balasubramaniam, Shanti

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Issue DateTitleAuthor(s)Citation
2017Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemiaBalasubramaniam, Shanti; Boulter, Emily L.; Stapleton, Ciara; Childrens Hospital Westmead: MedicineCitrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia, Journal of Paediatrics and Child Health, vol.53, 12, 2017,pp 1229-1232
2015Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Choy, Yew Sing; et al, Various; Fietz, Michael; Fu, Antony; Inwood, Anita; Jin, Dong-Kyu; Kim, Ok-Hwa; Kosuga, Motomichi; Kwun, Young Hee; Lin, Hsaing-Yu; Childrens Hospital Westmead: Paediatrics & Child HealthIdentifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI), Molecular Genetics and Metabolism, vol.115, 1, 2015,pp 41-47
2014Inborn errors of pyrimidine metabolism: clinical update and therapyChristodoulou, John; Balasubramaniam, Shanti; Duley, John; Childrens Hospital Westmead: Paediatrics & Child HealthInborn errors of pyrimidine metabolism: clinical update and therapy, Journal of Inherited Metabolic Disease (JIMD), vol.37, N/A, 2014,pp 687-698
2016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderChristodoulou, John; Riley, Lisa; Balasubramaniam, Shanti; et al, Various; Eyal, Eran; Heimer, Gaili; Hiltunen, J. Kalervo; Keratar, Juha; Marek-Yagel, Dina; Pietikainen, Laura; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder, American Journal of Human Genetics, vol.99, 6, 2016,pp 1229-1244
2016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderChristodoulou, John; Riley, Lisa; Balasubramaniam, Shanti; et al, Various; Eyal, Eran; Heimer, Gaili; Hiltunen, J. Kalervo; Keratar, Juha; Marek-Yagel, Dina; Pietikainen, Laura; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder, American Journal of Human Genetics, vol.99, 6, 2016,pp 1229-1244
2017Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 casesBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Alhaddad, Bader; Al-Owain, Mohammed A; AlSayed, Moeenaldeen; Al-Zaidan, Hamad I; Baric, I.; Bubshait, Dalal K; Burlina, Alberto; et al, Various; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Maas, Roeltje R; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthProgressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases, Annals of Neurology, vol.82, 6, 2017,pp 1004-1015
2017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Sue, Carolyn; Bahlo, Melanie; Cowley, Mark; Gayevskiy, Velimir; Prelog, Kristina; Roscioli, T; Thorburn, David; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineA SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders, Journal of Inherited Metabolic Disease, vol.40, 2, 2017,pp 261-269
2017Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Bratkovic, D; Cowley, Mark; Gardeitchik, T; Gayevskiy, Velimir; Ketteridge, D; Manton, N; Mohamed, M; Morava, E; Roscioli, Tony; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUnique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency, Journal of Inherited Metabolic Disease, vol.40, 5, 2017,pp 745-747