De Koning, Tom J: search on Z-Library

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1

Linking cytochrome P450 enzymes from Mycobacterium tuberculosis to their cognate ferredoxin partners

Ortega Ugalde, Sandra, de Koning, Coen P., Wallraven, Kerstin, Bruyneel, Ben, Vermeulen, Nico P. E., Grossmann, Tom N., Bitter, Wilbert, Commandeur, Jan N. M., Vos, J. Chris

Journal:

Applied Microbiology and Biotechnology

Year:

2018

Language:

english

File:

PDF, 1.35 MB

english, 2018

2

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Wijnen, Iris G. M., Veenstra-Knol, Hermine E., Vansenne, Fleur, Gerkes, Erica H., de Koning, Tom, Vos, Yvonne J., Tijssen, Marina A. J., Sival, Deborah, Darin, Niklas, Vanhoutte, Els K., Oosterloo, Ma

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 657 KB

2020

3

Comparison between three different LCIA methods for aquatic ecotoxicity and a product environmental risk assessment

Rana Pant, Gert Van Hoof, Diederik Schowanek, Tom C. J. Feijtel, Arjan de Koning, Michael Hauschild, Stig I. Olsen, David W. Pennington, Ralph Rosenbaum

Journal:

The International Journal of Life Cycle Assessment

Year:

2004

Language:

english

File:

PDF, 3.45 MB

english, 2004

4

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Hoogeveen, Irene J., Peeks, Fabian, de Boer, Foekje, Lubout, Charlotte M. A., de Koning, Tom J., te Boekhorst, Sebastiaan, Zandvoort, Robert-Jan, Burghard, Rob, van Spronsen, Francjan J., Derks, Terry

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 729 KB

english, 2018

5

Quantification of free and total sialic acid excretion by LC–MS/MS

Maria van der Ham, Berthil H.C.M.T. Prinsen, Jan G.M. Huijmans, Nicolaas G.G.M. Abeling, Bert Dorland, Ruud Berger, Tom J. de Koning, Monique G.M. de Sain-van der Velden

Journal:

Journal of Chromatography B

Year:

2007

Language:

english

File:

PDF, 360 KB

english, 2007

6

Low prevalence of cardiac valve abnormalities in patients with autosomal dominant polycystic liver disease

Tom J. G. Gevers, Daan B. de Koning, Arie P. van Dijk, Joost P. H. Drenth

Journal:

Liver International

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

7

Changes in Gross Efficiency During High Intensity Exercise

Uitslag, Tom P., Galiart, Rianna, Foster, Carl, Porcari, John P., Daanen, Hein, Noordhof, Dionne A., de Koning, Jos J.

Journal:

Medicine & Science in Sports & Exercise

Year:

2010

Language:

english

File:

PDF, 100 KB

english, 2010

8

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Dr. Tom J. de Koning, Marinus Duran, Lambertus Dorland, Rob Gooskens, Emile van Schaftingen, Jaak Jaeken, Nenad Blau, Ruud Berger, Bwee Tien Poll-The

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 435 KB

english, 1998

9

Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

Koens, Lisette H., Tijssen, Marina A.J., Lange, Fiete, Wolffenbuttel, Bruce H.R., Rufa, Alessandra, Zee, David S., de Koning, Tom J.

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 195 KB

english, 2018

10

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina, de Koning, Tom J

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 366 KB

english, 2014

11

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 680 KB

2019

12

[IEEE 2012 Asia-Pacific Symposium on Electromagnetic Compatibility (APEMC) - Singapore, Singapore (2012.05.21-2012.05.24)] 2012 Asia-Pacific Symposium on Electromagnetic Compatibility - Time-domain surface scan method

Coenen, Mart, Gierstberg, Tom, van Roermund, Arthur, de Koning, Anton, Coenen, Teis

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

13

[IEEE 2018 17th IEEE International Conference On Trust, Security And Privacy In Computing And Communications/ 12th IEEE International Conference On Big Data Science And Engineering (TrustCom/BigDataSE) - New York, NY, USA (2018.8.1-2018.8.3)] 2018 17th IEEE International Conference On Trust, Security And Privacy In Computing And Communications/ 12th IEEE International Conference On Big Data Science And Engineering (TrustCom/BigDataSE) - Towards Trustworthy Information Sharing by Creating Cyber Security Alliances

Deljoo, Ameneh, van Engers, Tom, Koning, Ralph, Gommans, Leon, de Laat, Cees

Year:

2018

Language:

english

File:

PDF, 157 KB

english, 2018

14

CC coupling and CH activation occurring in reactions of FeRu(CO)6(iPr-Pyca) (ipr-PycaC5H4N-2-CHN-iPr) with activated alkynes RCCR′ (RR′C(O)OMe; RH, R′C(O)Me)

Marco J.A. Kraakman, Tom C. de Koning, Paul P.M. de Lange, Kees Vrieze, Huub Kooijman, Anthony L. Spek

Journal:

Inorganica Chimica Acta

Year:

1993

Language:

english

File:

PDF, 1.04 MB

english, 1993

15

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE) - Part of a Phenotypic Continuum in Patients with ATP1A3 Mutations?

Sival, Deborah A., Vansenne, Fleur, Van der Hout, Annemieke H., Tijssen, Marina A.J., de Koning, Tom J.

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 606 KB

english, 2017

16

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

Tom J. de Koning, Lodewijk A. Sandkuijl, Jan E. A. R. de Schryver, Eric A. M. Hennekam, Frits A. Beemer, Dr. Roderick H. J. Houwen

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 404 KB

english, 1995

17

Serine-deficiency syndromes

de Koning, Tom J, Klomp, Leo WJ

Journal:

Current Opinion in Neurology

Year:

2004

Language:

english

File:

PDF, 128 KB

english, 2004

18

The Effect of Compliance With Preoperative Posturing Advice and Head Movements on the Progression of Macula-On Retinal Detachment

de Jong, Jan Hendrik, de Koning, Koen, Ouden, Tom den, van Meurs, Johan Casper, Vermeer, Koenraad Arndt

Journal:

Translational Vision Science & Technology

Year:

2019

Language:

english

File:

PDF, 1007 KB

english, 2019

19

[IEEE 2019 3rd Cyber Security in Networking Conference (CSNet) - Quito, Ecuador (2019.10.23-2019.10.25)] 2019 3rd Cyber Security in Networking Conference (CSNet) - Managing Effective Collaboration in Cybersecurity Alliances Using Social Computational Trust

Deljoo, Ameneh, Koning, Ralph, van Engers, Tom, Gommans, Leon, de Laat, Cees

Year:

2019

File:

PDF, 298 KB

2019

20

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage

Albersen, Monique, Bonthuis, Marjolein, de Roos, Nicole M., van den Hurk, Dorine A. M., Carbasius Weber, Ems, Hendriks, Margriet M. W. B., de Sain-van der Velden, Monique G. M., de Koning, Tom J., Vis

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 184 KB

english, 2010

21

Longitudinal structural and functional brain connectivity assessment in presymptomatic familial frontotemporal dementia

Dopper, Elise, Rombouts, Serge, Jiskoot, Lize, Heijer, Tom den, de Graaf, J., De Koning, Inge, Hammerschlag, Anke, Seelaar, Harro, Seeley, William, Veer, Ilya, van Buchem, Mark, Rizzu, Patrizia, van S

Journal:

Alzheimer's & Dementia

Year:

2013

Language:

english

File:

PDF, 51 KB

english, 2013

22

Cerebrospinal fluid d-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients

Sabine A. Fuchs, Martina M.J. De Barse, Floor E. Scheepers, Wiepke Cahn, Lambertus Dorland, Monique G. de Sain-van der Velden, Leo W.J. Klomp, Ruud Berger, René S. Kahn, Tom J. de Koning

Journal:

European Neuropsychopharmacology

Year:

2008

Language:

english

File:

PDF, 198 KB

english, 2008

23

l-Serine in disease and development

de KONING, Tom J., SNELL, Keith, DURAN, Marinus, BERGER, Ruud, POLL-THE, Bwee-Tien, SURTEES, Robert

Journal:

Biochemical Journal

Year:

2003

Language:

english

File:

PDF, 182 KB

english, 2003

24

Liquid chromatography–tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

Maria van der Ham, Tom J. de Koning, Dirk Lefeber, André Fleer, Berthil H.C.M.T. Prinsen, Monique G.M. de Sain-van der Velden

Journal:

Journal of Chromatography B

Year:

2010

Language:

english

File:

PDF, 224 KB

english, 2010

25

Comparison of double-balloon and single-balloon enteroscope for therapeutic endoscopic retrograde cholangiography after Roux-en-Y small bowel surgery

Michael De Koning,Tom G. Moreels

Journal:

BMC Gastroenterology

Year:

2016

Language:

english

File:

PDF, 901 KB

english, 2016

26

Expanding the ADCY5 phenotype toward spastic paraparesis

Waalkens, Anne J.E., Vansenne, Fleur, van der Hout, Annemarie H., Zutt, Rodi, Mourmans, Jeroen, Tolosa, Eduardo, de Koning, Tom J., Tijssen, Marina A.J.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 154 KB

english, 2018

27

Intracranial bleeding due to vitamin

Désirée Y. Visser, Nicolaas J. Jansen, Marloes M. Ijland, Tom J. de Koning, Peter M. van Hasselt

Journal:

Intensive Care Medicine

Year:

2011

Language:

english

File:

PDF, 229 KB

english, 2011

28

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelk

Journal:

Frontiers in Neurology

Year:

2016

Language:

english

File:

PDF, 1.46 MB

english, 2016

29

Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik

Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom de Koning, Kurt von Figura, Ludwig Lehle, Christian Körner

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.13 MB

english, 2004

30

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

van der Velde, K. Joeri, de Boer, Eddy N., van Diemen, Cleo C., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Knopperts, Alain, Franke, Lude, Sijmons, Rolf H., de Koning, Tom J., Wijmenga, Cisca, Sinke

Journal:

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

31

Viral Reactivations and Associated Outcomes in Context of Immune Reconstitution after Pediatric Hematopoietic Cell Transplantation

Admiraal, Rick, de Koning, Coco, Lindemans, Caroline A., Bierings, Marc B., Wensing, Annemarie M.J., Versluys, A. Birgitta, Wolfs, Tom F.W., Nierkens, Stefan, Boelens, Jaap Jan

Journal:

Journal of Allergy and Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

32

Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency

Duran, Marinus, Dorland, Lambertus, Jakobs, Cornelis, Wevers, Ron A, Berger, Ruud, Poll-The, Bwee-Tien, de Koning, Tom J

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

33

Longitudinal, structural and functional connectivity in presymptomatic familial frontotemporal dementia

Jiskoot, Lize C., Dopper, Elise G.P., Heijer, Tom den, Hafkemeijer, Anne, de Koning, Inge, Seelaar, Harro, Veer, Ilya, van Buchem, Mark, van Minkelen, Rick, Rombouts, Serge A.R.B., van Swieten, John C

Journal:

Alzheimer's & Dementia

Year:

2015

Language:

english

File:

PDF, 233 KB

english, 2015

34

Health-Related Quality of Life and Perception of Care of Mucopolysaccharidosis Type I - Hurler Syndrome Patients after Successful Hematopoietic Cell Transplantation: A Parents' Perspective

Aldenhoven, Mieke, Wynn, Robert F., O'Meara, Anne, Veys, Paul, Rovelli, Attilio, Jones, Simon A., Parini, Rossella, Renard, Marleen, Bordon, Victoria, de Koning, Tom J., Boelens, Jaap

Journal:

Biology of Blood and Marrow Transplantation

Year:

2015

Language:

english

File:

PDF, 271 KB

english, 2015

35

Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

Lunsing, Roelineke J., Strating, Kim, de Koning, Tom J., Sijens, Paul E.

Journal:

European Radiology

Year:

2017

Language:

english

File:

PDF, 1.78 MB

english, 2017

36

Is optimising gout treatment the key to closing the mortality gap in gout patients?

ten Brinck, Robin M, de Moel, Emma C, van der Pol, Joy A, van Beest, Sjoerd, de Koning, Anoek, Huizinga, Tom W J

Journal:

Annals of the Rheumatic Diseases

Year:

2017

Language:

english

File:

PDF, 437 KB

english, 2017

37

Validating the WHO maternal near miss tool: comparing high- and low-resource settings

Tom Witteveen,Hans Bezstarosti,Ilona de Koning…

Journal:

BMC Pregnancy and Childbirth

Year:

2017

Language:

english

File:

PDF, 404 KB

english, 2017

38

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John-Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke,

Journal:

Year:

2015

Language:

english

File:

PDF, 430 KB

english, 2015

39

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Hendriksz, Christian J., Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Chakrapani, Anupam, Corvol, Jean-Christophe, de Koning, Tom J., Degtyareva, Anna, Dionisi-Vici, Carlo, Doss, Sarah, Duning, Tho

Journal:

Current Medical Research and Opinion

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

40

North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

Lambrechts, Roald A., Polet, Sjoukje S., Hernandez-Pichardo, Alejandra, van Ninhuys, Lisa, Gorter, Jenke A., Grzeschik, Nicola A., de Koning-Tijssen, Marina A.J., de Koning, Tom J., Sibon, Ody C.M.

Journal:

Year:

2019

Language:

english

File:

PDF, 392 KB

english, 2019

41

Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Bianca T. van Maldegem, Marinus Duran, Ronald J.A. Wanders, Hans R. Waterham, Tom J. de Koning, Estela Rubio, Frits A. Wijburg

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

42

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges

de Koning, Tom J, Jongbloed, Jan DH, Sikkema-Raddatz, Birgit, Sinke, Richard J

Journal:

Expert Review of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 287 KB

english, 2015

43

Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency

Diekman, Eugene F., de Koning, Tom J., Verhoeven-Duif, Nanda M., Rovers, Maroeska M., van Hasselt, Peter M.

Journal:

Year:

2014

File:

PDF, 282 KB

2014

44

Validating the WHO Maternal Near Miss Tool in a high-income country

Witteveen, Tom, de Koning, Ilona, Bezstarosti, Hans, van den Akker, Thomas, van Roosmalen, Jos, Bloemenkamp, Kitty W.

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2016

Language:

english

File:

PDF, 375 KB

english, 2016

45

An Approach to Estimating Gross Efficiency during High-Intensity Exercise

de Koning, Jos J., Noordhof, Dionne A., Uitslag, Tom P., Galiart, Rianna E, Dodge, Christopher, Foster, Carl

Journal:

International Journal of Sports Physiology and Performance

Year:

2013

Language:

english

File:

PDF, 151 KB

english, 2013

46

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available

van Rijt, Willemijn J., Jager, Emmalie A., van Spronsen, Francjan J., de Koning, Tom, Heiner-Fokkema, M. Rebecca, Derks, Terry G.J.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 462 KB

english, 2016

47

CD4+ T-Cell Reconstitution Strongly Predicts Viral Reactivations Associated with Complications and Mortality after Pediatric Hematopoietic Cell Transplantation

Admiraal, Rick, de Koning, Coco C.H., Lindemans, Caroline A., Bierings, Marc, Wolfs, Tom, Wensing, Annemarie M., Versluys, Birgitta, Nierkens, Stefan, Boelens, Jaap-Jan

Journal:

Biology of Blood and Marrow Transplantation

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

48

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Theunissen, Tom E.J., Sallevelt, Suzanne C.E.H., Hellebrekers, Debby M.E.I., de Koning, Bart, Hendrickx, Alexandra T.M., van den Bosch, Bianca J.C., Kamps, Rick, Schoonderwoerd, Kees, Szklarczyk, Rade

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 504 KB

english, 2017

49

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

Nibbeling, Esther A.R., Delnooz, Cathérine C.S., de Koning, Tom J., Sinke, Richard J., Jinnah, Hyder A., Tijssen, Marina A.J., Verbeek, Dineke S.

Journal:

Neuroscience & Biobehavioral Reviews

Year:

2017

Language:

english

File:

PDF, 755 KB

english, 2017

50

The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation

Mieke Aldenhoven, JaapJan Boelens, Tom J. de Koning

Journal:

Biology of Blood and Marrow Transplantation

Year:

2008

Language:

english

File:

PDF, 438 KB

english, 2008

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