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1

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

2

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

3

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

4

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

5

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

6

[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

7

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

8

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

9

[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

10

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

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

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

13

Peroxisomal disorders

Bwee Tien Poll-The, Tom J. de Koning, Lambertus Dorland, Marinus Duran

Journal:

Neuroscience Research Communications

Year:

1998

Language:

english

File:

PDF, 1.31 MB

english, 1998

14

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

15

D-serine in the developing human central nervous system

Sabine A. Fuchs, Lambertus Dorland, Monique G. De Sain-Van Der Velden, Margriet Hendriks, Leo W. J. Klomp, Ruud Berger, Tom J. De Koning

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

16

Yield of additional metabolic studies in neurodevelopmental disorders

Hannelie M. Engbers, Ruud Berger, Peter van Hasselt, Tom de Koning, Monique G. M. de Sain-van der Velden, Hester Y. Kroes, Gepke Visser

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

17

Reply

Hannelie M. Engbers, Ruud Berger, Peter van Hasselt, Tom de Koning, Monique G. M. de Sain-van der Velden, Hester Kroes, Gepke Visser

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

18

Human suppressor T cell clones lack CD28

Shu Guang Li, Tom H. M. Ottenhoff, Peter van den Elsen, Frits Koning, Li Zhang, Tak Mak, René R. P. De Vries

Journal:

European Journal of Immunology

Year:

1990

Language:

english

File:

PDF, 760 KB

english, 1990

19

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

20

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

21

Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review

Marleen H. van der Linden, Moyo C. Kruyt, Ralph J. B. Sakkers, Tom J. de Koning, F. Cumhur Öner, René M. Castelein

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 235 KB

english, 2011

22

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

23

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

24

10.1038/9691

Waterham, Hans R., Poll-The, Bwee Tien, Houten, Sander M., Kuis, Wietse, Duran, Marinus, de Koning, Tom J., van Royen-Kerkhof, Annet, Romeijn, Gerrit J., Frenkel, Joost, Dorland, Lambertus, de Barse,

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

25

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

26

d-Serine: The right or wrong isoform?

Sabine A. Fuchs, Ruud Berger, Tom J. de Koning

Journal:

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

27

A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

Wouter F. Visser, Nanda M. Verhoeven-Duif, Roel Ophoff, Steven Bakker, Leo W. Klomp, Ruud Berger, Tom J. de Koning

Journal:

Journal of Chromatography A

Year:

2011

Language:

english

File:

PDF, 394 KB

english, 2011

28

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

29

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

30

Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden, JaapJan Boelens

Journal:

Biology of Blood and Marrow Transplantation

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

31

d-Amino acids in the central nervous system in health and disease

Sabine A. Fuchs, Ruud Berger, Leo W.J. Klomp, Tom J. de Koning

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 549 KB

english, 2005

32

Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

Stuart Moat, Rachel Carling, Authur Nix, Michael Henderson, Anthony Briddon, Helen Prunty, Roy Talbot, Annette Powell, Katherine Wright, Sabine Fuchs, Tom de Koning

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 295 KB

english, 2010

33

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Leo W.J. Klomp, Tom J. de Koning, Helga E.M. Malingré, Ellen A.C.M. van Beurden, Miny Brink, Frans L. Opdam, Marinus Duran, Jaak Jaeken, Merce Pineda, Lionel van Maldergem, Bwee Tien Poll-The, Inge E.

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.34 MB

english, 2000

34

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

35

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

36

Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

Tom J.de Koning, Lambertus Dorland, Gerard P.van Berge Henegouwen

Journal:

Journal of Hepatology

Year:

1999

Language:

english

File:

PDF, 469 KB

english, 1999

37

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

38

Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone

Bendadi, Fatiha, de Koning, Tom J., Visser, Gepke, Prinsen, Hubertus C.M.T., de Sain, Monique G.M., Verhoeven-Duif, Nanda, Sinnema, Gerben, van Spronsen, Francjan J., van Hasselt, Peter M.

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 384 KB

english, 2014

39

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

40

HLA class II restriction repertoire of antigen-specific T cells. II. Evidence for a new restriction determinant associated with DRw52 and LB-Q1

Ottenhoff, Tom H.M., Elferink, Dienne G., Termijtelen, Annemarie, Koning, Frits, de Vries, RenéR.P.

Journal:

Human Immunology

Year:

1985

Language:

english

File:

PDF, 359 KB

english, 1985

41

The influence of cerebral small vessel disease on default mode network deactivation in mild cognitive impairment

Papma, Janne M., den Heijer, Tom, de Koning, Inge, Mattace-Raso, Francesco U., van der Lugt, Aad, van der Lijn, Fedde, van Swieten, John C., Koudstaal, Peter J., Smits, Marion, Prins, Niels D.

Journal:

NeuroImage: Clinical

Year:

2013

Language:

english

File:

PDF, 968 KB

english, 2013

42

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, 115 KB

english, 2013

43

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

44

Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

de Koning, Tom J., Tijssen, Marina A. J.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2015

Language:

english

File:

PDF, 142 KB

english, 2015

45

Current Collecting Grids for R2R Processed Organic Solar Cells

Abbel, Robert, van den Boomen, Jaquelien, van Lammeren, Tim, de Koning, Tom, Valeton, Josué J. P., Meinders, Erwin R.

Journal:

MRS Proceedings

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

46

Assessment of speech in early-onset ataxia: a pilot study

Kuiper, Marieke J, Brandsma, Rick, Lawerman, Tjitske F, Lunsing, Roelineke J, Keegstra, Anne L, Burger, Huibert, De Koning, Tom J, Tijssen, Marina A J, Sival, Deborah A

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 145 KB

english, 2014

47

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

van Egmond, Martje E., Elting, Jan Willem J., Kuiper, Anouk, Zutt, Rodi, Heineman, Kirsten R., Brouwer, Oebele F., Sival, Deborah A., Willemsen, Michel A., Tijssen, Marina A.J., de Koning, Tom J.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 612 KB

english, 2015

48

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

49

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

Language:

english

File:

PDF, 282 KB

english, 2014

50

A novel diagnostic approach to patients with myoclonus

Zutt, Rodi, van Egmond, Martje E., Elting, Jan Willem, van Laar, Peter Jan, Brouwer, Oebele F., Sival, Deborah A., Kremer, Hubertus P., de Koning, Tom J., Tijssen, Marina A.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015