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51

Early diagnosis of inherited metabolic diseases: towards improving outcome

Erik Harms, Adelbert Roscher, Cornelis Jakobs, Sylvia Stöckler-Ipsiroglu

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

52

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

Marine Jequier Gygax, Eliane Roulet-Perez, Kathleen Meagher-Villemure, Cornelis Jakobs, Gajja S. Salomons, Olivier Boulat, Andrea Superti-Furga, Diana Ballhausen, Luisa Bonafé

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

53

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

Levinus A. Bok, Jasper V. Been, Eduard A. Struys, Cornelis Jakobs, Elisabeth A. M. Rijper, Michèl A. Willemsen

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 132 KB

english, 2010

54

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

55

X-linkedcreatine transporter(SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Amy J. Clark, Efraim H. Rosenberg, Ligia S. Almeida, Tim C. Wood, Cornelis Jakobs, Roger E. Stevenson, Charles E. Schwartz, Gajja S. Salomons

Journal:

Year:

2006

Language:

english

File:

PDF, 241 KB

english, 2006

56

Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity

Verena Peters, Moustafa Kebbewar, Erwin W. Jansen, Cornelis Jakobs, Eva Riedl, Hannes Koeppel, Dirk Frey, Katja Adelmann, Kristina Klingbeil, Matthias Mack, Georg F. Hoffmann, Bart Janssen, Johannes Z

Journal:

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

57

X-linked creatine transporter deficiency

Maria C. Schiaffino, Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, Eugenio Bonioli

Journal:

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

58

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Ofir T. Betsalel, Jiddeke M. van de Kamp, Cristina Martínez-Muñoz, Efraim H. Rosenberg, Arjan P. M. de Brouwer, Petra J. W. Pouwels, Marjo S. van der Knaap, Grazia M. S. Mancini, Cornelis Jakobs, Ben

Journal:

Year:

2008

Language:

english

File:

PDF, 461 KB

english, 2008

59

The Komrower Memorial Lecture 2008

Cornelis Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 182 KB

english, 2008

60

Opening Editorial ‘The Garrod Day’

Cornelis Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

61

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

Megumi Tsuji, Noriko Aida, Takayuki Obata, Moyoko Tomiyasu, Noritaka Furuya, Kenji Kurosawa, Abdellatif Errami, K. Michael Gibson, Gajja S. Salomons, Cornelis Jakobs, Hitoshi Osaka

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

62

SSIEM reflections 2004–2010: the growing stature of our society

Cornelis Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

63

Introduction to the Komrower Memorial Lecture 2010

Cornelis Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 158 KB

english, 2011

64

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

65

Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard

Tom Zee, Frans Stellaard, Cornelis Jakobs

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1992

Language:

english

File:

PDF, 430 KB

english, 1992

66

Investigation of the metabolic pattern in maple syrup urine disease by means of glass capillary gas chromatography and mass spectrometry

Cornelis Jakobs, Eivind Solem, Johan Ek, Karin Halvorsen, Egil Jellum

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1977

Language:

english

File:

PDF, 698 KB

english, 1977

67

The Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness

Rossana Mirabella, Han Rauwerda, Eduard A. Struys, Cornelis Jakobs, Christian Triantaphylidès, Michel A. Haring, Robert C. Schuurink

Journal:

The Plant Journal

Year:

2008

Language:

english

File:

PDF, 663 KB

english, 2008

68

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

DECLAN J O’ROURKE, STEPHANIE RYAN, GAJJA SALOMONS, CORNELIS JAKOBS, AHMAD MONAVARI, MARY D KING

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 167 KB

english, 2009

69

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

BERNHARD SCHMITT, MATTHIAS BAUMGARTNER, PHILIPPA B MILLS, PETER T CLAYTON, CORNELIS JAKOBS, ELMAR KELLER, GABRIELE WOHLRAB

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 883 KB

english, 2010

70

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?

HANS HARTMANN, MICHAEL FINGERHUT, CORNELIS JAKOBS, BARBARA PLECKO

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 340 KB

english, 2011

71

Effect of folic acid on methionine and homocysteine metabolism in end-stage renal disease

Stam, Frank, van Guldener, Coen, ter Wee, Piet M., Jakobs, Cornelis, de Meer, Kees, Stehouwer, Coen D.A.

Journal:

Kidney International

Year:

2005

Language:

english

File:

PDF, 104 KB

english, 2005

72

Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D)

Maria Margherita Mancardi, Ubaldo Caruso, Maria Cristina Schiaffino, Maria Giuseppina Baglietto, Andrea Rossi, Francesca Maria Battaglia, Gajja Sophi Salomons, Cornelis Jakobs, Federico Zara, Edvige V

Journal:

Year:

2007

Language:

english

File:

PDF, 119 KB

english, 2007

73

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

Pasquale Striano, Silvia Battaglia, Lucio Giordano, Giuseppe Capovilla, Francesca Beccaria, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs

Journal:

Year:

2009

Language:

english

File:

PDF, 220 KB

english, 2009

74

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

Levinus A. Bok, Natasha M. Maurits, Michèl A. Willemsen, Cornelis Jakobs, Laura K. Teune, Bwee Tien Poll-The, Irenaeus F. De Coo, Mona C. Toet, Eveline E. Hagebeuk, Oebele F. Brouwer, Johannes H. Van

Journal:

Year:

2010

Language:

english

File:

PDF, 297 KB

english, 2010

75

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

76

Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response

Ralser, Markus, Wamelink, Mirjam M C, Latkolik, Simone, Jansen, Erwin E W, Lehrach, Hans, Jakobs, Cornelis

Journal:

Nature Biotechnology

Year:

2009

Language:

english

File:

PDF, 241 KB

english, 2009

77

Mississippi Delta subsidence primarily caused by compaction of Holocene strata

Törnqvist, Torbjörn E., Wallace, Davin J., Storms, Joep E. A., Wallinga, Jakob, van Dam, Remke L., Blaauw, Martijn, Derksen, Mayke S., Klerks, Cornelis J. W., Meijneken, Camiel, Snijders, Els M. A.

Journal:

Nature Geoscience

Year:

2008

Language:

english

File:

PDF, 281 KB

english, 2008

78

Serum homocysteine level and protein intake are related to risk of microalbuminuria: The Hoorn Study1

Kostense, Pieter J, Jager, Agnes, Heine, Robert J, Hoogeveen, Ellen K, Jakobs, Cornelis, Bouter, Lex M, Donker, Ab J M, Stehouwer, Coen D A

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 233 KB

english, 1998

79

The clinical syndrome of creatine transporter deficiency

Ton J. De Grauw, Kim M. Cecil, Anna W. Byars, Gajja S. Salomons, William S. Ball, Cornelis Jakobs

Journal:

Molecular and Cellular Biochemistry

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

80

Distinct glycoforms of human α1-acid glycoprotein have comparable synthesis rates: a [13C]valine-labelling study in healthy humans

Dennis C.W. Poland, Willem Kulik, Willem van Dijk, Marcella M. Hallemeesch, Cornelis Jakobs, Kees de Meer

Journal:

Glycoconjugate Journal

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

81

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

82

Characterization of oxygen-resistant Chinese hamster ovary cells. III. Relative resistance of succinate and α-ketoglutarate dehydrogenases to hyperoxic inactivation

Willem G.E.J. Schoonen, A.Handayani Wanamarta, Joan M. Van der Klei-Van Moorsel, Cornelis Jakobs, Hans Joenje

Journal:

Free Radical Biology and Medicine

Year:

1991

Language:

english

File:

PDF, 719 KB

english, 1991

83

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus K. Bjursell, Henk J. Blom, Jordi Asin Cayuela, Martin L. Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 623 KB

english, 2011

84

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Phillip L. Pearl, Lovy Shukla, William H. Theodore, Cornelis Jakobs, K. Michael Gibson

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 1.29 MB

english, 2011

85

Minimal sampling protocol for accurate estimation of urea production: a study with oral [13C]urea in fed and fasted piglets

Michiel J.S. Oosterveld, Reinoud J.B.J. Gemke, Jack R. Dainty, Willem Kulik, Cornelis Jakobs, Kees de Meer

Journal:

Clinical Nutrition

Year:

2005

Language:

english

File:

PDF, 207 KB

english, 2005

86

Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel

Stanley H. Korman, Cornelis Jakobs, Patricia S. Darmin, Alisa Gutman, Marjo S. van der Knaap, Ziva Ben-Neriah, Imad Dweikat, Isaiah D. Wexler, Gajja S. Salomons

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 356 KB

english, 2007

87

Novel mutations in pyridoxine-dependent epilepsy

A. Millet, G.S. Salomons, F. Cneude, C. Corne, T. Debillon, C. Jakobs, E. Struys, S. Hamelin

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 383 KB

english, 2011

88

Metabolism of lysine in α-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: Evidence for an alternative pathway of pipecolic acid formation

Eduard A. Struys, Cornelis Jakobs

Journal:

Year:

2010

Language:

english

File:

PDF, 281 KB

english, 2010

89

Plasma myeloperoxidase is inversely associated with endothelium-dependent vasodilation in elderly subjects with abnormal glucose metabolism

Leonard P. van der Zwan, Tom Teerlink, Jacqueline M. Dekker, Ronald M.A. Henry, Coen D.A. Stehouwer, Cornelis Jakobs, Robert J. Heine, Peter G. Scheffer

Journal:

Year:

2010

Language:

english

File:

PDF, 261 KB

english, 2010

90

Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons, PC12 and SHSY-5Y cells

Michael Linnebank, Holger Lutz, Eva Jarre, Stefan Vielhaber, Carmen Noelker, Eduard Struys, Cornelis Jakobs, Thomas Klockgether, Bernd O. Evert, Wolfram S. Kunz, Ullrich Wüllner

Journal:

Neurobiology of Disease

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

91

Differential effect of valproate and its Δ2- and Δ4-unsaturated metabolites, on the β-oxidation rate of long-chain and medium-chain fatty acids

Margarida F.B Silva, Jos P.N Ruiter, Lodewijk IJlst, Cornelis Jakobs, Marinus Duran, Isabel Tavares de Almeida, Ronald J.A Wanders

Journal:

Chemico-Biological Interactions

Year:

2001

Language:

english

File:

PDF, 319 KB

english, 2001

92

Carnitine palmitoyltransferase II specificity towards β-oxidation intermediates : Evidence for a reverse carnitine cycle in mitochondria

Fátima V. Ventura, Lodewijk Ijlst, Jos Ruiter, Rob Ofman, Catarina G. Costa, Cornelis Jakobs, Marinus Duran, Isabel Tavares De Almeida, Loran L. Bieber, Ronald J. A. Wanders

Journal:

Year:

1998

Language:

english

File:

PDF, 159 KB

english, 1998

93

Long-term outcome in pyridoxine-dependent epilepsy

LEVINUS A BOK, FEICO J HALBERTSMA, SASKIA HOUTERMAN, RON A WEVERS, CHARLOTTE VREESWIJK, CORNELIS JAKOBS, EDUARD STRUYS, JOHAN H VAN DER HOEVEN, DEBORAH A SIVAL, MICHÈL A WILLEMSEN

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

94

Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity

Sipkens, Jessica A., Hahn, Nynke, den Brand, Carlien S., Meischl, Christof, Cillessen, Saskia A. G. M., Smith, Desirée E. C., Juffermans, Lynda J. M., Musters, René J. P., Roos, Dirk, Jakobs, Cornelis

Journal:

Cell Biochemistry and Biophysics

Year:

2013

Language:

english

File:

PDF, 2.01 MB

english, 2013

95

Null Mutations of theDictyosteliumCyclic Nucleotide Phosphodiesterase Gene Block Chemotactic Cell Movement in Developing Aggregates

Richard Sucgang, Cornelis J. Weijer, Florian Siegert, Jakob Franke, Richard H. Kessin

Journal:

Developmental Biology

Year:

1997

Language:

english

File:

PDF, 2.13 MB

english, 1997

96

Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation

Charles R. Roe, Eduard Struys, Robert M. Kok, Diane S. Roe, Robert A. Harris, Cornelis Jakobs

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

97

Valproate Induces in Vitro Accumulation of Long-Chain Fatty Acylcarnitines

Margarida F.B. Silva, Cornelis Jakobs, Marinus Duran, Isabel Tavares de Almeida, Ronald J.A. Wanders

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 43 KB

english, 2001

98

Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver

Ronald J.A. Wanders, Simone Denis, Carlo W.T. van Roermund, Cornelis Jakobs, Herman J. ten Brink

Journal:

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

Year:

1992

Language:

english

File:

PDF, 656 KB

english, 1992

99

The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis

Sverre Landaas, Cornelis Jakobs

Journal:

Clinica Chimica Acta

Year:

1977

Language:

english

File:

PDF, 269 KB

english, 1977

100

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

Cornelis Jakobs, Monika Bojasch, Eberhard Mönch, Dietz Rating, Hartmut Siemes, Folker Hanefeld

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 647 KB

english, 1981