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K. Bhattacharya · SciRah

Researcher profile · Semantic Scholar

K. Bhattacharya

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K. Bhattacharya — researcher profile on SciRah

h-index: 20
Works: 60
Citations: 1,454

Most-cited papers

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W. Friederich, Michael A. Swanson, T. Shaikh +25 more
2014Brain : a journal of neurology205 citations Open access
Semantic Scholar
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
A. Montaño, Ngu Lock-Hock, R. Steiner, B. Graham +24 more
2016Journal of Medical Genetics154 citations Open access
Semantic Scholar
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib,,
Catherine E. Correia, K. Bhattacharya, Philip J. Lee, J. Shuster +4 more
2008American Journal of Clinical Nutrition99 citations Open access
Semantic Scholar
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
E. Blommaert, Romain Péanne, N. Cherepanova, D. Rymen +13 more
2019Proceedings of the National Academy of Sciences of the United States of America80 citations Open access
Semantic Scholar
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
A. Muntau, Darius J. Adams, A. Bélanger-Quintana, T. Bushueva +14 more
2019Molecular Genetics and Metabolism67 citations Open access
Semantic Scholar
CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy
Kathryn Berrier, Z. Kazi, S. Prater, Deeksha S. Bali +10 more
2015Genetics in Medicine66 citations Open access
Semantic Scholar
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
L. Riley, M. Cowley, V. Gayevskiy, A. Minoche +15 more
2020Genetics in Medicine63 citations Open access
Semantic Scholar
Expanded newborn screening in New South Wales: missed cases
Jane Estrella, B. Wilcken, K. Carpenter, K. Bhattacharya +2 more
2014Journal of Inherited Metabolic Disease62 citations
Semantic Scholar
Investigation and management of the hepatic glycogen storage diseases.
K. Bhattacharya
2015Translational Pediatrics51 citations
Semantic Scholar
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
R. Schrover, K. Evans, R. Giugliani, I. Noble +1 more
2017Orphanet Journal of Rare Diseases46 citations Open access
Semantic Scholar
Dietary dilemmas in the management of glycogen storage disease type I
K. Bhattacharya
2011Journal of Inherited Metabolic Disease40 citations
Semantic Scholar
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.
Arthavan Selvanathan, Carolyn Ellaway, Callum Wilson, P. Owens +2 more
2018JIMD Reports32 citations Open access
Semantic Scholar
Rare diseases research and policy in Australia: On the journey to equitable care
K. Bhattacharya, N. Millis, A. Jaffe, Y. Zurynski
2021Journal of Paediatrics and Child Health29 citations
Semantic Scholar
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
S. Mohammad, R. Angiti, A. Biggin, Hugo Morales-Briceño +36 more
2020Brain Communications29 citations Open access
Semantic Scholar
Overcoming the barriers to diagnosis of Morquio A syndrome
K. Bhattacharya, S. Balasubramaniam, Y. Choy, M. Fietz +17 more
2014Orphanet Journal of Rare Diseases28 citations Open access
Semantic Scholar
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J. van Rijt, Emmalie A. Jager, D. Allersma, A. Zeybek +20 more
2020Genetics in Medicine27 citations Open access
Semantic Scholar
The evolution of blood-spot newborn screening.
K. Bhattacharya, Tiffany L Wotton, V. Wiley
2014Translational Pediatrics27 citations
Semantic Scholar
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
L. Riley, Michael Nafisinia, Minal Menezes, Reta Nambiar +11 more
2021Molecular Genetics and Metabolism26 citations
Semantic Scholar
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
B. Ryder, M. Inbar-Feigenberg, E. Glamuzina, Rebecca K. Halligan +20 more
2021Journal of Inherited Metabolic Disease21 citations
Semantic Scholar
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study
K. Bhattacharya, H. Mundy, M. F. Lilburn, M. Champion +2 more
2015Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
Infantile‐onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response
P. Owens, M. Wong, K. Bhattacharya, C. Ellaway
2018Journal of Paediatrics and Child Health20 citations
Semantic Scholar
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
K. Bhattacharya, W. Matar, A. Tolun, B. Devanapalli +4 more
2020Orphanet Journal of Rare Diseases19 citations Open access
Semantic Scholar
A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism
Ashley Hertzog, Arthavan Selvanathan, B. Devanapalli, G. Ho +2 more
2021Translational Pediatrics18 citations Open access
Semantic Scholar
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Michael Nafisinia, L. Riley, W. Gold, K. Bhattacharya +4 more
2017PLoS ONE18 citations Open access
Semantic Scholar
Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, K. Batten +13 more
2023Nutrients17 citations Open access
Semantic Scholar
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
M. Menezes, S. Rahman, K. Bhattacharya, Damian Clark +10 more
2016Mitochondrion (Amsterdam. Print)16 citations Open access
Semantic Scholar
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
Noha Elserafy, Sue Thompson, T. Dalkeith, M. Stormon +7 more
2021JIMD Reports15 citations Open access
Semantic Scholar
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
G. Ho, I. Alexander, K. Bhattacharya, Barbara Dennison +4 more
2013JIMD Reports15 citations Open access
Semantic Scholar
Extended newborn screening: An update for the general paediatrician
D. Coman, K. Bhattacharya
2012Journal of Paediatrics and Child Health14 citations
Semantic Scholar
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
John J. Mitchell, B. Burton, M. Bober, Philippe M. Campeau +12 more
2022Molecular Genetics and Metabolism12 citations Open access
Semantic Scholar
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Y. Choy, K. Bhattacharya, S. Balasubramaniam, M. Fietz +18 more
2015Molecular Genetics and Metabolism12 citations
Semantic Scholar
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
R. Rius, A. Compton, Naomi Baker, S. Balasubramaniam +63 more
2023medRxiv11 citations Open access
Semantic Scholar
Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.
S. Korula, P. Owens, A. Charlton, K. Bhattacharya
2016JIMD Reports11 citations Open access
Semantic Scholar
Dietary Management of the Ketogenic Glycogen Storage Diseases
K. Bhattacharya, Jennifer Pontin, Sue Thompson
201610 citations Open access
Semantic Scholar
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won-Tae Kim +5 more
2022JIMD Reports9 citations Open access
Semantic Scholar
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
R. Rius, Neal K. Bennett, K. Bhattacharya, L. Riley +12 more
2022Human Mutation9 citations Open access
Semantic Scholar
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Arthavan Selvanathan, J. Kinsella, F. Moore, R. Wynn +4 more
2021JIMD Reports8 citations Open access
Semantic Scholar
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy
Kathryn Berrier, Z. Kazi, S. Prater, Deeksha S. Bali +10 more
2015Genetics in Medicine8 citations Open access
Semantic Scholar
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
B. P. Sankaran, Sachin Gupta, Michel Tchan, B. Devanapalli +3 more
2021Orphanet Journal of Rare Diseases6 citations Open access
Semantic Scholar
Intronic variants in inborn errors of metabolism: Beyond the exome
Ashley Hertzog, Arthavan Selvanathan, E. Farnsworth, Michel Tchan +6 more
2022Frontiers in Genetics5 citations Open access
Semantic Scholar
A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency
Ashley Hertzog, Arthavan Selvanathan, Rebecca K. Halligan, Timothy N. Fazio +6 more
2022JIMD Reports5 citations Open access
Semantic Scholar
Diagnosis and management of mitochondrial respiratory chain disorders
K. Bhattacharya, S. Rahman, J. Leonard
20035 citations
Semantic Scholar
Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease
Arthavan Selvanathan, C. Forwood, J. Russell, K. Batten +13 more
2023Pediatric Blood & Cancer4 citations Open access
Semantic Scholar
Exercise testing and prescription in patients with inborn errors of muscle energy metabolism
K. Batten, K. Bhattacharya, D. Simar, C. Broderick
2023Journal of Inherited Metabolic Disease4 citations Open access
Semantic Scholar
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies
S. Cunningham, Eva B. van Dijk, Erhua Zhu, Maya Sugden +11 more
2023Human Gene Therapy3 citations Open access
Semantic Scholar
Genetic Metabolic Disease
K. Bhattacharya, F. Moore, J. Christodoulou
2022Keeling's Fetal and Neonatal Pathology3 citations
Semantic Scholar
Investigating paediatric hypoglycaemia: Dynamic studies at a tertiary paediatric hospital
Lara E. Graves, K. Stewart, G. Ambler, K. Bhattacharya +1 more
2021Journal of Paediatrics and Child Health2 citations
Semantic Scholar
Protecting the rare during a rare pandemic
Gareth S. Baynam, C. Wicking, K. Bhattacharya, N. Millis
2020Medical Journal of Australia2 citations Open access
Semantic Scholar
International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)
S. C. Grünert, K. Bhattacharya, D. Karall, M. Langeveld +6 more
2026Journal of Inherited Metabolic Disease1 citations Open access
Semantic Scholar
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Louisa Adams, Arthavan Selvanathan, K. Batten, N. Van Doorn +9 more
2023JIMD Reports1 citations Open access
Semantic Scholar

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