| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 237 | 2021 |
| Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome CP Sentner, IJ Hoogeveen, DA Weinstein, R Santer, E Murphy, ... Journal of inherited metabolic disease 39, 697-704, 2016 | 178 | 2016 |
| The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet journal of rare diseases 14, 1-11, 2019 | 152 | 2019 |
| The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome TGJ Derks, DJ Reijngoud, HR Waterham, WJM Gerver, MP Van Den Berg, ... The Journal of pediatrics 148 (5), 665-670. e3, 2006 | 145 | 2006 |
| Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study BC Schwahn, FJ Van Spronsen, AA Belaidi, S Bowhay, J Christodoulou, ... The Lancet 386 (10007), 1955-1963, 2015 | 143 | 2015 |
| Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor SB Wortmann, JLK Van Hove, TGJ Derks, N Chevalier, V Knight, A Koller, ... Blood, The Journal of the American Society of Hematology 136 (9), 1033-1043, 2020 | 138 | 2020 |
| Mutations in RARS cause hypomyelination NI Wolf, GS Salomons, RJ Rodenburg, PJW Pouwels, JH Schieving, ... Annals of neurology 76 (1), 134-139, 2014 | 129 | 2014 |
| Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and inherited disorders of gluconeogenesis DA Weinstein, U Steuerwald, CFM De Souza, TGJ Derks Pediatric Clinics 65 (2), 247-265, 2018 | 99 | 2018 |
| Acute hepatic steatosis in mice by blocking β-oxidation does not reduce insulin sensitivity of very-low-density lipoprotein production A Grefhorst, J Hoekstra, TGJ Derks, DM Ouwens, JFW Baller, R Havinga, ... American Journal of Physiology-Gastrointestinal and Liver Physiology 289 (3 …, 2005 | 89 | 2005 |
| Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions TGJ Derks, M van Rijn Journal of inherited metabolic disease 38, 537-543, 2015 | 88 | 2015 |
| Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency TGJ Derks, TS Boer, A Van Assen, T Bos, J Ruiter, HR Waterham, ... Journal of inherited metabolic disease 31, 88-96, 2008 | 88 | 2008 |
| Childhood Pompe disease: clinical spectrum and genotype in 31 patients CI Van Capelle, JC Van der Meijden, JMP Van Den Hout, J Jaeken, ... Orphanet Journal of Rare Diseases 11 (1), 65, 2016 | 78 | 2016 |
| Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children LM Brown, MM Corrado, RM van der Ende, TGJ Derks, MA Chen, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 73 | 2015 |
| Safe and unsafe duration of fasting for children with MCAD deficiency TGJ Derks, FJ Van Spronsen, JP Rake, CS Van der Hilst, MM Span, ... European journal of pediatrics 166, 5-11, 2007 | 70 | 2007 |
| Dietary management in glycogen storage disease type III: what is the evidence? TGJ Derks, GPA Smit Journal of inherited metabolic disease 38, 545-550, 2015 | 61 | 2015 |
| Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib SC Grünert, R Elling, B Maag, SB Wortmann, TGJ Derks, L Hannibal, ... Orphanet journal of rare diseases 15, 1-8, 2020 | 60 | 2020 |
| Glycogen storage disease type Ia: current management options, burden and unmet needs TGJ Derks, DF Rodriguez-Buritica, A Ahmad, F de Boer, ML Couce, ... Nutrients 13 (11), 3828, 2021 | 52 | 2021 |
| Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ... Nature communications 9 (1), 4065, 2018 | 52 | 2018 |
| Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire SC Grünert, TGJ Derks, K Adrian, K Al-Thihli, D Ballhausen, J Bidiuk, ... Genetics in medicine 24 (8), 1781-1788, 2022 | 51 | 2022 |
| Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes JC Bleeker, IL Kok, S Ferdinandusse, WL van der Pol, I Cuppen, ... Journal of Inherited Metabolic Disease 42 (3), 414-423, 2019 | 51 | 2019 |
