| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 241 | 2014 |
| Clinical course of sly syndrome (mucopolysaccharidosis type VII) AM Montaño, N Lock-Hock, RD Steiner, BH Graham, M Szlago, ... Journal of medical genetics 53 (6), 403-418, 2016 | 195 | 2016 |
| Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib CE Correia, K Bhattacharya, PJ Lee, JJ Shuster, DW Theriaque, ... The American journal of clinical nutrition 88 (5), 1272-1276, 2008 | 123 | 2008 |
| A novel starch for the treatment of glycogen storage diseases K Bhattacharya, RC Orton, X Qi, H Mundy, DW Morley, MP Champion, ... Journal of inherited metabolic disease 30, 350-357, 2007 | 106 | 2007 |
| Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype E Blommaert, R Péanne, NA Cherepanova, D Rymen, F Staels, J Jaeken, ... Proceedings of the National Academy of Sciences 116 (20), 9865-9870, 2019 | 92 | 2019 |
| Investigation and management of the hepatic glycogen storage diseases K Bhattacharya Translational pediatrics 4 (3), 240, 2015 | 84 | 2015 |
| CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy KL Berrier, ZB Kazi, SN Prater, DS Bali, J Goldstein, MC Stefanescu, ... Genetics in Medicine 17 (11), 912-918, 2015 | 79 | 2015 |
| The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease LG Riley, MJ Cowley, V Gayevskiy, AE Minoche, C Puttick, DR Thorburn, ... Genetics in Medicine 22 (7), 1254-1261, 2020 | 71 | 2020 |
| Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ... Med 2 (1), 49-73. e10, 2021 | 69 | 2021 |
| International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria AC Muntau, DJ Adams, A Bélanger-Quintana, TV Bushueva, R Cerone, ... Molecular Genetics and Metabolism 127 (1), 1-11, 2019 | 68 | 2019 |
| Expanded newborn screening in New South Wales: missed cases J Estrella, B Wilcken, K Carpenter, K Bhattacharya, M Tchan, V Wiley Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2014 | 66 | 2014 |
| Dietary dilemmas in the management of glycogen storage disease type I K Bhattacharya Journal of inherited metabolic disease 34 (3), 621-629, 2011 | 61 | 2011 |
| Newborn screening may fail to identify intermediate forms of maple syrup urine disease K Bhattacharya, V Khalili, V Wiley, K Carpenter, B Wilcken Journal of inherited metabolic disease 29, 586-586, 2006 | 48 | 2006 |
| 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, K Bhattacharya Orphanet Journal of Rare Diseases 12 (1), 78, 2017 | 46 | 2017 |
| The evolution of blood-spot newborn screening K Bhattacharya, T Wotton, V Wiley Translational Pediatrics 3 (2), 63, 2014 | 44 | 2014 |
| Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: a case series A Selvanathan, C Ellaway, C Wilson, P Owens, PJ Shaw, K Bhattacharya JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism, 81-89, 2018 | 41 | 2018 |
| Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in … B Shanti, M Silink, K Bhattacharya, NJ Howard, K Carpenter, M Fietz, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 41 | 2009 |
| Efficacy and safety of D, L-3-hydroxybutyrate (D, L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency WJ van Rijt, EA Jager, DP Allersma, AÇ Aktuğlu Zeybek, K Bhattacharya, ... Genetics in medicine 22 (5), 908-916, 2020 | 36 | 2020 |
| Overcoming the barriers to diagnosis of Morquio A syndrome K Bhattacharya, S Balasubramaniam, YS Choy, M Fietz, A Fu, DK Jin, ... Orphanet journal of rare diseases 9, 1-11, 2014 | 32 | 2014 |
| Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders SS Mohammad, RR Angiti, A Biggin, H Morales-Briceño, R Goetti, ... Brain Communications 2 (2), fcaa178, 2020 | 30 | 2020 |
