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Author

Beena Devanapalli

Observed name: B. Devanapalli
Observed institutions: The University of Sydney, Children's Hospital at Westmead, Westmead Hospital, UNSW Sydney, Sydney Children's Hospital, Sydney Children’s Hospitals Network
ORCID: 0000-0002-4982-8496
Observed ORCID: 0000-0002-4982-8496
OpenAlex ID: A5006648166
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium‐chain fatty acid receptor Gpr84
2019 · Magdalene K. Montgomery, Brenna Osborne, et al. · The FASEB Journal · 65
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
2021 · Bryony Ryder, Michal Inbar‐Feigenberg, et al. · Journal of Inherited Metabolic Disease · 29
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A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism
2022 · Ashley Hertzog, Arthavan Selvanathan, et al. · Translational Pediatrics · 25
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The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
2020 · Kaustuv Bhattacharya, Walid Matar, et al. · Orphanet Journal of Rare Diseases · 22
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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
2023 · Susan Thompson, Ashley Hertzog, et al. · Nutrients · 19
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Effect of long-term storage at −80 °C on the various lipid parameters in stored plasma samples
2002 · Beena Devanapalli, Margaret A. Bermingham, et al. · Clinica Chimica Acta · 17
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
2021 · Mona Sajeev, Sharon Chin, et al. · International Journal of Neonatal Screening · 14
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Biotinidase deficiency: A treatable neurometabolic disorder
2024 · Beena Devanapalli, Rachel Sze Hui Wong, et al. · Brain and Development Case Reports · 11
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
2023 · Frances J Evesson, Gregory Dziaduch, et al. · Human Molecular Genetics · 10
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Lipoprotein (a) in an immigrant Indian population sample in Australia
2002 · B. Devanapalli, S. Lee, et al. · British Journal of Biomedical Science · 10
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
2021 · Bindu Parayil Sankaran, Sachin Gupta, et al. · Orphanet Journal of Rare Diseases · 7
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Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach
2023 · Rachel Sze Hui Wong, Shekeeb Mohammad, et al. · Brain and Development · 5
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies
2023 · Sharon C. Cunningham, Eva B. van Dijk, et al. · Human Gene Therapy · 4
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Functional editing of the OTC locus by targeted integration with phenotype correction and restoration of endogenous expression patterns
2026 · Samantha L. Ginn, Fatemeh Doroudian, et al. · Molecular Therapy · 2
Quantitative analysis of amino acids in physiological fluids by UPLC-MS/MS with stable isotope internal standards
2012 · B. Devanapalli, K. Sim, et al. · Pathology · 1
Use of sodium D, L-3-hydroxybutyrate as adjunct therapy in two siblings with HMG-CoA lyase deficiency
2023 · Beena Devanapalli, Adviye Ayper Tolun, et al. · Journal of Translational Genetics and Genomics
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Multiple acyl-Coa dehydrogenase deficiency (MADD) – adult and neonatal presentation
2022 · Beena Devanapalli, Michel Tchan, et al. · Pathology
Maternal carnitine uptake deficiency detected by newborn screening
2016 · Beena Devanapalli, Kevin Carpenter · Pathology
First steps in the harmonisation of adult plasma amino acid reference intervals in Australasia
2016 · Mark de Hora, James Pitt, et al. · Pathology
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Works count: 19
Citation count: 241
H-index: 10
I10-index: 10
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