| 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 | 160 | 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 | 154 | 2016 |
| 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 | 130 | 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 | 129 | 2015 |
| 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 | 117 | 2019 |
| Mutations in RARS cause hypomyelination NI Wolf, GS Salomons, RJ Rodenburg, PJW Pouwels, JH Schieving, ... Annals of neurology 76 (1), 134-139, 2014 | 117 | 2014 |
| 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 | 115 | 2020 |
| 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 | 90 | 2005 |
| 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 | 86 | 2008 |
| 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 | 85 | 2018 |
| 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 | 78 | 2015 |
| 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 | 69 | 2015 |
| 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 | 66 | 2016 |
| 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 | 63 | 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 | 52 | 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 | 50 | 2020 |
| Disturbed hepatic carbohydrate management during high metabolic demand in medium‐chain acyl–CoA dehydrogenase (MCAD)–deficient mice H Herrema, TGJ Derks, TH van Dijk, VW Bloks, A Gerding, R Havinga, ... Hepatology 47 (6), 1894-1904, 2008 | 49 | 2008 |
| 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 | 47 | 2018 |
| Nine years of newborn screening for classical galactosemia in the Netherlands: effectiveness of screening methods, and identification of patients with previously unreported … L Welling, A Boelen, TGJ Derks, PCJI Schielen, M de Vries, M Williams, ... Molecular genetics and metabolism 120 (3), 223-228, 2017 | 46 | 2017 |
| Inborn errors of metabolism that cause sudden infant death: a systematic review with implications for population neonatal screening programmes WJ Van Rijt, GD Koolhaas, J Bekhof, MR Heiner Fokkema, TJ De Koning, ... Neonatology 109 (4), 297-302, 2016 | 44 | 2016 |
