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TGJ Derks
TGJ Derks
University of Groningen, University Medical Center Groningen
在 umcg.nl 的电子邮件经过验证 - 首页
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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
1822021
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
1622016
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
1362006
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
1302015
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
1272019
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
1222020
Mutations in RARS cause hypomyelination
NI Wolf, GS Salomons, RJ Rodenburg, PJW Pouwels, JH Schieving, ...
Annals of neurology 76 (1), 134-139, 2014
1222014
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
922018
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
902005
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
862008
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
832015
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
722015
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
672016
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
642007
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
572020
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
532015
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
512018
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
512008
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
472017
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
462016
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