| Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ... Molecular genetics and metabolism 107 (3), 335-344, 2012 | 115 | 2012 |
| Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome CR Coughlin II, CDM van Karnebeek, W Al-Hertani, AY Shuen, ... Molecular Genetics and Metabolism 116 (1-2), 35-43, 2015 | 111 | 2015 |
| Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ... JIMD Reports, Volume 15, 47-57, 2015 | 63 | 2015 |
| Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases M Dunbar, S Jaggumantri, M Sargent, S Stockler-Ipsiroglu, ... Molecular genetics and metabolism 112 (4), 259-274, 2014 | 61 | 2014 |
| Biofeedback for nonneuropathic daytime voiding disorders in children: a systematic review and meta-analysis of randomized controlled trials MS Fazeli, Y Lin, N Nikoo, S Jaggumantri, JP Collet, K Afshar The Journal of urology 193 (1), 274-280, 2015 | 54 | 2015 |
| Current treatment and management of pyridoxine-dependent epilepsy CDM van Karnebeek, S Jaggumantri Current treatment options in neurology 17, 1-12, 2015 | 49 | 2015 |
| Treatment of creatine transporter (SLC6A8) deficiency with oral S-adenosyl methionine as adjunct to L-arginine, glycine, and creatine supplements S Jaggumantri, M Dunbar, V Edgar, C Mignone, T Newlove, R Elango, ... Pediatric neurology 53 (4), 360-363. e2, 2015 | 26 | 2015 |
| Neuroimaging spectrum of inherited neurotransmitter disorders YT Lim, K Mankad, M Kinali, AP Tan Neuropediatrics 51 (01), 006-021, 2020 | 11 | 2020 |
| Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations. JIMD Rep. 15, 1–11 CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ... | 4 | 2014 |
| Preliminary results of STAAR, a Phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease and long-term follow-up J Ganesh, P Deegan, O Goker-Alpan, RJ Hopkin, JA Bernat, W Wilcox, ... Poster Session Presented at: Society for Inborn Errors of Metabolism Annual …, 2022 | 2 | 2022 |
| ISDN2014_0220: personalized evaluation model for making informed decisions in treatments for individuals with intellectual disability S Jaggumantri, W McKellin, S Stockler, C van Karnebeek, JP Collet International Journal of Developmental Neuroscience 47 (Part_A), 66-66, 2015 | 2 | 2015 |
| A phase I/II multicenter gene therapy clinical study for Fabry disease J Ganesh, O Goker-Alpan, S Jaggumantri, B Souberbielle, B Cockroft Molecular Genetics and Metabolism 132 (2), S41-S42, 2021 | 1 | 2021 |
| Personalized evidence of treatment effects for the practice of personalized medicine: a new model of care JP Collet, W McKellin, S Jaggumantri, N Kissoon BMC Health Services Research 14, 1-1, 2014 | 1 | 2014 |
| STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results RJ Hopkin, J Ganesh, P Deegan, O Goker-Alpan, J Bernat, WR Wilcox, ... Molecular Genetics and Metabolism 138 (2), 107152, 2023 | | 2023 |
| Preliminary results of STAAR, a Phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease and long-term follow-up P Deegan, J Ganesh, O Goker-Alpan, R Hopkin, J Bernat, W Wilcox, ... HUMAN GENE THERAPY 33 (23-24), A9-A10, 2022 | | 2022 |
| MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency CDM van Karnebeek, W Al-Hertani, S Jaggumantri, C Coughlin, ... Journal of Medical Genetics 52 (Suppl 1), A9-A9, 2015 | | 2015 |
| Evaluating treatment effect based on personal outcomes of specific interest (POSI): a personalized patient-reported outcome strategy S Jaggumantri, JP Collet, W McKellin, R Sawatzky, S Stockler, ... QUALITY OF LIFE RESEARCH 24, 138-138, 2015 | | 2015 |
| 2015 update on triple therapy for pyridoxine-dependent epilepsy S Jaggumantri, C Coughlin, S Stockler, C Barb, C Mary, J van Hove, ... Canadian Journal of Neurological Sciences 42 (S1), S13-S13, 2015 | | 2015 |
| ISDN2014 0220 S Jaggumantri, W McKellin, S Stockler, C van Karnebeek, JP Collet Abstracts/Int. J. Devl Neuroscience 47, 1-131, 2015 | | 2015 |
| Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial C van Karnebeek, H Hartmann, S Jaggumantri, L Bok, A Das, S Gospe, ... Neuropediatrics 44 (02), FV12_04, 2013 | | 2013 |
