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ke niezen-koning
ke niezen-koning
university of groningen, university medical center groningen
Verified email at umcg.nl
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Cited by
Year
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
9791999
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
3281999
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
1552006
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
1282003
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
1081993
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
892000
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
882012
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
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
791997
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
652016
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
652000
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
622016
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
612007
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
542004
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
441995
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
422012
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
422007
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
411997
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
402000
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
382016
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