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1

Facial anomalies inD-2-hydroxyglutaric aciduria

Amiel, Jeanne, de Lonlay, Pascale, Francannet, Christine, Picard, Alain, Bruel, Henri, Rabier, Daniel, Le Merrer, Martine, Verhoeven, Nanda, Jakobs, Cornelis, Lyonnet, Stanislas, Munnich, Arnold

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 328 KB

english, 1999

2

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

Eduard A. Struys, Stanley H. Korman, Gajja S. Salomons, Patricia S. Darmin, Younes Achouri, Emile Van Schaftingen, Nanda M. Verhoeven, Cornelis Jakobs

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

3

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Eduard A. Struys, Gajja S. Salomons, Younes Achouri, Emile Van Schaftingen, Salvatore Grosso, William J. Craigen, Nanda M. Verhoeven, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

4

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Marjo S. Van Der Knaap, Nanda M. Verhoeven, Petra Maaswinkel-Mooij, Petra J. W. Pouwels, Wim Onkenhout, Els A. J. Peeters, Sylvia Stöckler-Ipsiroglu, Cornelius Jakobs

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 7.47 MB

english, 2000

5

Lack of creatine in muscle and brain in an adult with GAMT deficiency

Andreas Schulze, Peter Bachert, Heinz Schlemmer, Inga Harting, Tilman Polster, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, Brian Fowler, Georg F. Hoffmann, Ertan Mayatepek

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

6

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Kim M. Cecil, Gajja S. Salomons, William S. Ball Jr., Brenda Wong, Gail Chuck, Nanda M. Verhoeven, Cornelis Jakobs, Ton J. DeGrauw

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 2.98 MB

english, 2001

7

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism

Sytske H. Moolenaar, Marjo S. van der Knaap, Udo F. H. Engelke, Petra J. W. Pouwels, Fokje S. M. Janssen-Zijlstra, Nanda M. Verhoeven, Cornelis Jakobs, Ron A. Wevers

Journal:

NMR in Biomedicine

Year:

2001

Language:

english

File:

PDF, 173 KB

english, 2001

8

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC–MS/MS: application to two new inherited defects of metabolism

Mirjam M.C. Wamelink, Eduard A. Struys, Jojanneke H.J. Huck, Birthe Roos, Marjo S. van der Knaap, Cornelis Jakobs, Nanda M. Verhoeven

Journal:

Journal of Chromatography B

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

9

A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography–tandem mass spectrometry

Erwin E.W. Jansen, K. Michael Gibson, Yosuke Shigematsu, Cornelis Jakobs, Nanda M. Verhoeven

Journal:

Journal of Chromatography B

Year:

2006

Language:

english

File:

PDF, 223 KB

english, 2006

10

Phytanoyl-CoA hydroxylase activity is induced by phytanic acid

Anna W. M. Zomer, Gerbert A. Jansen, Bart van der Burg, Nanda M. Verhoeven, Cornelis Jakobs, Paul T. van der Saag, Ronald J. A. Wanders, Bwee Tien Poll-The

Journal:

Year:

2000

Language:

english

File:

PDF, 409 KB

english, 2000

11

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

Krijn T. Verbruggen, Wilma A. Knijff, Roelineke J. Soorani-Lunsing, Paul E. Sijens, Nanda M. Verhoeven, Gajja S. Salomons, Siena M. Goorhuis-Brouwer, Francjan J. van Spronsen

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 117 KB

english, 2007

12

Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome

Enrico Lopriore, Reinoud J. B. J. Gemke, Nanda M. Verhoeven, Cornelis Jakobs, Ronald J. A. Wanders, Angelique B. C. Roeleveld-Versteeg, Bwee Tien Poll-The

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 67 KB

english, 2001

13

ASSOCIATION BETWEEN VITAMIN B6 AND WHITE MATTER HYPERINTENSITIES IN PATIENTS WITH ALZHEIMER'S DISEASE NOT MEDIATED BY HOMOCYSTEINE METABOLISM

Cees Mulder, Wiesje M. Van Der Flier, Robert Veerhuis, Femke Bouwman, Cornelis Jakobs, Nanda M. Verhoeven, Frederik Barkhof, Philip Scheltens, Marinus A. Blankenstein

Journal:

Journal of the American Geriatrics Society

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

14

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

15

Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency

Erwin E.W. Jansen, Nanda M. Verhoeven, Cornelis Jakobs, Andreas Schulze, Henry Senephansiri, Maneesh Gupta, O. Carter Snead, K. Michael Gibson

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

16

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Udo F.H. Engelke, Fokje S.M. Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, Leo A.J. Kluijtmans, András Perl, Nanda M. Verhoeven-Duif, Pascale de Lonlay, Mirjam M.C. Wamelink, Corneli

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 849 KB

english, 2010

17

Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography–mass spectrometry

Carla Valongo, Maria Luı́s Cardoso, Pedro Domingues, Lı́gia Almeida, Nanda Verhoeven, Gajja Salomons, Cornelis Jakobs, Laura Vilarinho

Journal:

Clinica Chimica Acta

Year:

2004

Language:

english

File:

PDF, 334 KB

english, 2004

18

Laboratory diagnosis of defects of creatine biosynthesis and transport

Nanda M. Verhoeven, Gajja S. Salomons, Cornelis Jakobs

Journal:

Clinica Chimica Acta

Year:

2005

Language:

english

File:

PDF, 118 KB

english, 2005

19

Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Vassili Valayannopoulos, Nanda M. Verhoeven, Karine Mention, Gajja S. Salomons, Danièle Sommelet, Marie Gonzales, Guy Touati, Pascale de Lonlay, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

20

The transmethylation cycle in the brain of Alzheimer patients

Cees Mulder, Niki S.M. Schoonenboom, Erwin E.W. Jansen, Nanda M. Verhoeven, Gerard J. van Kamp, Cornelis Jakobs, Philip Scheltens

Journal:

Neuroscience Letters

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

21

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism

Jojanneke H.J Huck, Birthe Roos, Cornelis Jakobs, Marjo S van der Knaap, Nanda M Verhoeven

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 322 KB

english, 2004

22

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Antonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, Daniel Rabier, Marco Spada, Marie-Cecile Nassogne, Bwee-Tien T Poll-The, Giovanni Bonetti, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 462 KB

english, 2004

23

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Lı́gia S Almeida, Nanda M Verhoeven, Birthe Roos, Carla Valongo, Maria Luis Cardoso, Laura Vilarinho, Gajja S Salomons, Cornelis Jakobs

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 391 KB

english, 2004

24

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity

Ronny Jung, Anita Rauch, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, K. Michael Gibson, Ehrenfried Lachmann, Jörn Oliver Sass, Udo Trautmann, Christiane Zweier, Gundula Staatz, Ina Knerr

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 278 KB

english, 2006

25

Pristanic acid β-oxidation in peroxisomal disorders: studies in cultured human fibroblasts

Nanda M Verhoeven, Danielle S.M Schor, Charles R Roe, Ronald J.A Wanders, Cornelis Jakobs

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1998

Language:

english

File:

PDF, 71 KB

english, 1998

26

Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria

Eduard A. Struys, Nanda M. Verhoeven, Henri Brunengraber, Cornelis Jakobs

Journal:

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

27

Human metabolism of phytanic acid and pristanic acid

Nanda M Verhoeven, Cornelis Jakobs

Journal:

Progress in Lipid Research

Year:

2001

Language:

english

File:

PDF, 173 KB

english, 2001

28

Phytanic acid α-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts

Nanda M Verhoeven, Danielle S.M. Schor, Charles R Roe, Ronald J.A Wanders, Cornelis Jakobs

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

29

Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes

Gerbert A. Jansen, Nanda M. Verhoeven, Simone Denis, Gerrit-Jan Romeijn, Cornelis Jakobs, Herman J. ten Brink, Ronald J.A. Wanders

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

1999

Language:

english

File:

PDF, 241 KB

english, 1999

30

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

Nanda M. Verhoeven, Jojanneke H.J. Huck, Birthe Roos, Eduard A. Struys, Gajja S. Salomons, Adriaan C. Douwes, Marjo S. van der Knaap, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 620 KB

english, 2001

31

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 339 KB

english, 2001

32

L-2-Hydroxyglutaric Aciduria in Staffordshire Bull Terriers

Carley J. Abramson, Simon R. Platt, Cornelis Jakobs, Nanda M. Verhoeven, Ruth Dennis, Laurent Garosi, G. Diane Shelton

Journal:

Journal of Veterinary Internal Medicine

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

33

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

Veiga-da-Cunha, Maria, Verhoeven-Duif, Nanda M., Koning, Tom J., Duran, Marinus, Dorland, Bert, Schaftingen, Emile

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

34

Metabolism of γ-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase

Eduard A. Struys, Nanda M. Verhoeven, Erwin E.W. Jansen, Herman J. ten Brink, Maneesh Gupta, Terry G. Burlingame, Lawrence S. Quang, Timothy Maher, Piero Rinaldo, O. Carter Snead, Amy K. Goodwin, Elis

Journal:

Year:

2006

Language:

english

File:

PDF, 201 KB

english, 2006

35

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Jojanneke H.J. Huck, Nanda M. Verhoeven, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.07 MB

english, 2004

36

Development and validation of a quantitative LC–tandem MS assay for hexadeca-4,7,10,13-tetraenoic acid in human and mouse plasma

Stigter, Edwin C.A., Letsiou, Sophia, Broek, Niels J.F. vd, Gerrits, Johan, Ishihara, Kenji, Voest, Emile E., Verhoeven-Duif, Nanda M., Brenkman, Arjan B.

Journal:

Journal of Chromatography B

Year:

2013

Language:

english

File:

PDF, 347 KB

english, 2013

37

Differences between acylcarnitine profiles in plasma and bloodspots

de Sain-van der Velden, Monique G.M., Diekman, Eugene F., Jans, Judith J., van der Ham, Maria, Prinsen, Berthil H.C.M.T., Visser, Gepke, Verhoeven-Duif, Nanda M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 481 KB

english, 2013

38

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU

Jans, Judith J., de Sain-van der Velden, Monique G.M., van Hasselt, Peter M., van den Hurk, Dorine T.A.M., Vaz, Frederic M., Visser, Gepke, Verhoeven-Duif, Nanda M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 274 KB

english, 2013

39

The potential of exosomes in diagnosis and treatment of inborn errors of metabolism

van Balkom, Bas W. M., van Doorn, Jaap, Verhoeven-Duif, Nanda M., Verhaar, Marianne C.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 374 KB

english, 2014

40

Fatal cerebral edema associated with serine deficiency in CSF

Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, Koning, Tom J., Verhoeven-Duif, Nanda M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

41

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood

Prinsen, Hubertus C.M.T., Holwerda-Loof, Nellie E., de Sain-van der Velden, Monique G.M., Visser, Gepke, Verhoeven-Duif, Nanda M.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 352 KB

english, 2013

42

LIVERPOOL.

Prinsen, Hubertus C.M.T., Holwerda-Loof, Nellie E., de Sain-van der Velden, Monique G.M., Visser, Gepke, Verhoeven-Duif, Nanda M.

Journal:

Year:

1897

Language:

english

File:

PDF, 432 KB

english, 1897

43

NOTES FROM INDIA.

Prinsen, Hubertus C.M.T., Holwerda-Loof, Nellie E., de Sain-van der Velden, Monique G.M., Visser, Gepke, Verhoeven-Duif, Nanda M.

Journal:

Year:

1910

Language:

english

File:

PDF, 374 KB

english, 1910

44

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

45

P4-316 The methionine-homocysteine cycle in the brain of Alzheimer patients

Mulder, Cees, Schoonenboom, Niki, Jansen, Erwin E., Verhoeven Duif, Nanda, van Kamp, Gerard J., Jakobs, Cornelis, Scheltens, Philip

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 158 KB

english, 2004

46

Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots

de Sain-van der Velden, Monique G.M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, van Hasselt, Peter M., Prinsen, Hubertus C.M.T., Verhoeven-Duif, Nanda M.

Journal:

Analytica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 628 KB

english, 2015

47

Increased Plasma Levels of Chemoresistance-Inducing Fatty Acid 16:4(n-3) After Consumption of Fish and Fish Oil

Daenen, Laura G. M., Cirkel, Geert A., Houthuijzen, Julia M., Gerrits, Johan, Oosterom, Ilse, Roodhart, Jeanine M. L., van Tinteren, Harm, Ishihara, Kenji, Huitema, Alwin D. R., Verhoeven-Duif, Nanda

Journal:

Year:

2015

Language:

english

File:

PDF, 496 KB

english, 2015

48

D-Amino Acid Aberrations in Cerebrospinal Fluid and Plasma of Smokers

Luykx, Jurjen J, Bakker, Steven C, van Boxmeer, Loes, Vinkers, Christiaan H, Smeenk, Hanne E, Visser, Wouter F, Verhoeven-Duif, Nanda M, Strengman, Eric, Buizer-Voskamp, Jacobine E, de Groene, Lizzy,

Journal:

Neuropsychopharmacology

Year:

2013

Language:

english

File:

PDF, 373 KB

english, 2013

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

File:

PDF, 282 KB

2014

50

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

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