The frequency of lysosomal storage diseases in The Netherlands BJHM Poorthuis, RA Wevers, WJ Kleijer, JEM Groener, JGN de Jong, ... Human genetics 105, 151-156, 1999 | 1012 | 1999 |
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency ABP Van Kuilenburg, P Vreken, N Abeling, HD Bakker, R Meinsma, ... Human genetics 104, 1-9, 1999 | 333 | 1999 |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency BT van Maldegem, M Duran, RJA Wanders, KE Niezen-Koning, ... Jama 296 (8), 943-952, 2006 | 155 | 2006 |
D, L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD) JLK Van Hove, S Grünewald, J Jaeken, P Demaerel, PE Declercq, ... The Lancet 361 (9367), 1433-1435, 2003 | 129 | 2003 |
A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60 HRS Etienne Agsteribbe, Anke Huckriede, Marten Veenhuis, Marcel HJ Ruiters ... Biochemical and biophysical research communications 193 (1), 146-154, 1993 | 108 | 1993 |
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients CEM Hollak, ESV De Sonnaville, D Cassiman, GE Linthorst, JE Groener, ... Molecular genetics and metabolism 107 (3), 526-533, 2012 | 95 | 2012 |
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart JP Rake, AM ten Berge, G Visser, E Verlind, KE Niezen-Koning, ... European Journal of Pediatrics 159, 322-330, 2000 | 90 | 2000 |
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 |
Type Iiib Glycogen Storage Disease Associated With End–Stage Cirrhosis and Hepatocellular Carcinoma EB Haagsma, GP Smit, KE Niezen-Koning, AS Gouw, L Meerman, ... Hepatology 25 (3), 537-540, 1997 | 79 | 1997 |
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency M Huemer, R Mulder-Bleile, P Burda, DS Froese, T Suormala, BB Zeev, ... Journal of inherited metabolic disease 39, 115-124, 2016 | 69 | 2016 |
Translational targeted proteomics profiling of mitochondrial energy metabolic pathways in mouse and human samples JC Wolters, J Ciapaite, K Van Eunen, KE Niezen-Koning, A Matton, ... Journal of proteome research 15 (9), 3204-3213, 2016 | 68 | 2016 |
Succinyl-CoA: 3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three … T Fukao, GA Mitchell, XQ Song, H Nakamura, S Kassovska-Bratinova, ... Genomics 68 (2), 144-151, 2000 | 66 | 2000 |
Plasma hemopexin activity in pregnancy and preeclampsia WW Bakker, RB Donker, A Timmer, MG van Pampus, WJ van Son, ... Hypertension in Pregnancy 26 (2), 227-239, 2007 | 61 | 2007 |
Increased plasma carnitine concentrations in preeclampsia IGI Thiele, KE Niezen-Koning, AH van Gennip, JG Aarnoudse Obstetrics & Gynecology 103 (5 Part 1), 876-880, 2004 | 56 | 2004 |
Pompe disease: current state of treatment modalities and animal models TM Geel, PMJ McLaughlin, L De Leij, MHJ Ruiters, KE Niezen-Koning Molecular genetics and metabolism 92 (4), 299-307, 2007 | 47 | 2007 |
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study CML Touw, GPA Smit, M de Vries, JBC de Klerk, AM Bosch, G Visser, ... Orphanet journal of rare diseases 7, 1-8, 2012 | 45 | 2012 |
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father G Visser, T Suormala, GPA Smit, DJ Reijngoud, MTE Bink-Boelkens, ... European journal of pediatrics 159, 901-904, 2000 | 45 | 2000 |
A patient with lethal cardiomyopathy and a carnitine—acylcarnitine translocase deficiency KE Niezen-Koning, FJ Van Spronsen, L Ijlst, RJA Wanders, M Brivet, ... Journal of inherited metabolic disease 18, 230-232, 1995 | 44 | 1995 |
Succinyl-CoA: acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature KE Niezen-Koning, RJA Wanders, JPN Ruiter, L Ijlst, G Visser, ... European journal of pediatrics 156, 870-873, 1997 | 42 | 1997 |
Serotonergic perturbations in dystonia disorders—a systematic review M Smit, AL Bartels, M van Faassen, A Kuiper, KE Niezen-Koning, IP Kema, ... Neuroscience & Biobehavioral Reviews 65, 264-275, 2016 | 38 | 2016 |