KB
Kaustuv Bhattacharya
Children's Health Ireland, Temple Street, UNSW Sydney
Research areas: Biochemistry, Genetics and Molecular Biology · Clinical Biochemistry · Metabolism and Genetic Disorders · Lysosomal Storage Disorders Research · Glycogen Storage Diseases and Myoclonus
0000-0003-0518-5879
Employment
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Children's Health Ireland, Temple Street Consultant Metabolic Paediatrician2025 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (63)
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD) Save
- Utility of Exogenous Ketones and Modified Atkins Diet in a Child With GSD VII (Tarui Disease) Save
- Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease Save
- Genomic Newborn Screening: Verdict From an Australian Citizens’ Jury Save
- An exercise intervention in children and young adults with McArdle disease: feasibility, acceptability, and clinical outcomes Save
- “The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care Save
- An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening Save
- Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand Save
- ‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives Save
- Genetic newborn screening stakeholder perspectives Save
- Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases Save
- Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy Save
- 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis Save
- A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism Save
- A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency Save
- FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children Save
- Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa Save
- International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021 Save
- Intronic variants in inborn errors of metabolism: Beyond the exome Save
- GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome Save