Carolyn Bursle
Children's Health Queensland Hospital and Health Service(AU)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, RNA and protein synthesis mechanisms, Ion Transport and Channel Regulation
Most-Cited Works
- → COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis(2016)16 cited
- → DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion(2016)14 cited
- → Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis(2017)10 cited
- → Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation(2017)8 cited
- → Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease(2019)6 cited
- → N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report(2022)3 cited
- → A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland(2026)
- → Effects of commencing sapropterin therapy on quality of life for children with phenylketonuria and their families: a qualitative interview study(2024)
- → Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism(2025)
- → Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease(2025)