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Cornelis Jakobs

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Benjamin Nota; Jean-Marc Nuoffer; Rossella Parini; Ana Pop; Marie-Hélène Read; Axel Renneberg; René Santer; Erik A Sistermans; Thomas Strahleck; Eduard A Struys; Marjo S van der Knaap; Silvy J M van Dooren; Emile Van Schaftingen; Magalie Barth; Tawfeg Ben-Omran; Marianna R Bevova; Pascale de Lonlay; Matilde R Fernandez Ojeda; Georg F Hoffmann; Cornelis Jakobs; Erwin E W Jansen; Warsha A Kanhai; Martijn Kranendijk; Marie T McDonald; Alf Meberg; Ania C Muntau; Aggie W M Nieuwint; Gajja S Salomons
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Jiddeke M van de Kamp; K Michael Gibson; Cornelis Jakobs; Gajja S Salomons
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.
Clara D M van Karnebeek; Eduard A Struys; Johanna H van der Lee; Johan L K Van Hove; Levinus A Bok; Barb Cheng; Jean-Paul Collet; Mary Connolly; Curtis R Coughlin; Anibh M Das; Sidney M Gospe; Hans Hartmann; Sravan Jaggumantri; Cornelis Jakobs; Saadet Mercimek-Mahmutoglu; Uta Meyer; Barbara R Plecko; Graham Sinclair; Sylvia Stockler
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

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2013: Benjamin Nota; Jean-Marc Nuoffer; Rossella Parini; Ana Pop; Marie-Hélène Read; Axel Renneberg; René Santer; Erik A Sistermans; Thomas Strahleck; Eduard A Struys; Marjo S van der Knaap; Silvy J M van Dooren; Emile Van Schaftingen; Magalie Barth; Tawfeg Ben-Omran; Marianna R Bevova; Pascale de Lonlay; Matilde R Fernandez Ojeda; Georg F Hoffmann; Cornelis Jakobs; Erwin E W Jansen; Warsha A Kanhai; Martijn Kranendijk; Marie T McDonald; Alf Meberg; Ania C Muntau; Aggie W M Nieuwint; Gajja S Salomons
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
American journal of human genetics 2013;92(4):627-31.
2013: Jiddeke M van de Kamp; K Michael Gibson; Cornelis Jakobs; Gajja S Salomons
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.
Journal of inherited metabolic disease 2013;36(1):155-6.
2012: Clara D M van Karnebeek; Eduard A Struys; Johanna H van der Lee; Johan L K Van Hove; Levinus A Bok; Barb Cheng; Jean-Paul Collet; Mary Connolly; Curtis R Coughlin; Anibh M Das; Sidney M Gospe; Hans Hartmann; Sravan Jaggumantri; Cornelis Jakobs; Saadet Mercimek-Mahmutoglu; Uta Meyer; Barbara R Plecko; Graham Sinclair; Sylvia Stockler
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Molecular genetics and metabolism 2012;107(3):335-44.
2012: Levinus A Bok; Feico J Halbertsma; Saskia Houterman; Cornelis Jakobs; Deborah A Sival; Eduard Struys; Johannes H Van Der Hoeven; Charlotte Vreeswijk; Ron A Wevers; Michèl A Willemsen
Long-term outcome in pyridoxine-dependent epilepsy.
Developmental medicine and child neurology 2012;54(9):849-54.
2012: Eduard A Struys; Michel A Willemsen; Levinus A Bok; Dina Emal; Saskia Houterman; Cornelis Jakobs
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
Journal of inherited metabolic disease 2012;35(5):909-16.
2012: Martijn Kranendijk; Gajja S Salomons; Eduard A Struys; Marjo S van der Knaap; Cornelis Jakobs
Progress in understanding 2-hydroxyglutaric acidurias.
Journal of inherited metabolic disease 2012;35(4):571-87.
2012: Monica S Rocha; Yvo Smulders; Isabel Tavares de Almeida; Tom Teerlink; Rita Castro; Cornelis Jakobs; Mirian C H Janssen; Leo A J Kluijtmans; Isabel Rivera; Henk J Blom
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
Atherosclerosis 2012;222(2):509-11.
2012: Joseph D T Ndika; Patricia O'Neill; Michael D Wirt; James A Barkovich; Ofir T Betsalel; Cornelis Jakobs; Kathreen Johnston; Gajja S Salomons
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Molecular genetics and metabolism 2012;106(1):48-54.
2012: M Barroso; Henk J Blom; Isabel Tavares de Almeida; R Esse; Anita Q Gomes; I Gonçalves; Cornelis Jakobs; J Loscalzo; Isabel Rivera; M S Rocha; T Teerlink; Rita Castro
Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells.
Amino acids 2012;42(5):1903-11.
2012: Ofir T Betsalel; Matilde Fernandez-Ojeda; Cornelis Jakobs; Ana Pop; Efraim H. Rosenberg; Gajja S Salomons
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Molecular genetics and metabolism 2012;105(4):596-601.
2011: Hans Hartmann; Cornelis Jakobs; Michael Fingerhut; Barbara Plecko
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
Developmental medicine and child neurology 2011;53(12):1150-3.
2011: M Kranendijk; Gajja S Salomons; K Michael Gibson; Cornelis Jakobs; Emile Van Schaftingen; Eduard A Struys
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
Biochimica et biophysica acta 2011;1812(11):1380-4.
2011: Patricia Dill; Cornelis Jakobs; Jacques Schneider; Mustafa Tekin; Beat Thöny; Daniel Trachsel; Peter Weber; Nenad Blau
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Molecular genetics and metabolism 2011;104(3):362-8.
2011: Nana-Maria Grüning; Cornelis Jakobs; Hans Lehrach; Michael Mülleder; Katharina Bluemlein; Michael Breitenbach; Mark Rinnerthaler; Mirjam M C Wamelink; Markus Ralser
Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells.
Cell metabolism 2011;14(3):415-27.
2011: Antje Krüger; Hans Lehrach; Dimitri Parkhomchuk; Katharina Bluemlein; Nana-Maria Grüning; Cornelis Jakobs; Martin Kerick; Alexander Kirpy; Michal-Ruth Schweiger; Aleksey Soldatov; Mirjam M C Wamelink; Markus Ralser
The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response.
Antioxidants & redox signaling 2011;15(2):311-24.
2011: Mirjam M C Wamelink; Eduard A Struys; Erwin E W Jansen; Henk J Blom; T Vilboux; W A Gahl; M Kömhoff; Cornelis Jakobs; Elena N Levtchenko
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
Molecular genetics and metabolism 2011;102(3):339-42.
2011: J M van de Kamp; G M S Mancini; P J W Pouwels; O T Betsalel; S J M van Dooren; I de Koning; M E Steenweg; Cornelis Jakobs; M S van der Knaap; G S Salomons
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
Clinical genetics 2011;79(3):264-72.
2011: Mirjam M C Wamelink; Birthe Roos; Erwin E W Jansen; M F Mulder; K Michael Gibson; Cornelis Jakobs
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
Molecular genetics and metabolism 2011;102(2):216-7.
2011: Ofir T Betsalel; Efraim H. Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul-Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
European journal of human genetics : EJHG 2011;19(1):56-63.
2010: Monica S Rocha; Rita Castro; Isabel Rivera; Robert M Kok; Yvo M Smulders; Cornelis Jakobs; Isabel Tavares de Almeida; Henk J Blom
Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2010;48(12):1793-8.
2010: Cornelis Jakobs
SSIEM reflections 2004-2010: the growing stature of our society.
Journal of inherited metabolic disease 2010;33(6):641-4.
2010: Saadet Mercimek-Mahmutoglu; Mary B Connolly; Kenneth J Poskitt; Gabriella A Horvath; Noel Lowry; Gajja S Salomons; Brett Casey; Graham Sinclair; Cynthia Davis; Cornelis Jakobs; Sylvia Stockler-Ipsiroglu
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
Molecular genetics and metabolism 2010;101(4):409-12.
2010: 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
Plasma myeloperoxidase is inversely associated with endothelium-dependent vasodilation in elderly subjects with abnormal glucose metabolism.
Metabolism: clinical and experimental 2010;59(12):1723-9.
2010: Prabath W B Nanayakkara; Martina Meijboom; Mark H H Kramer; Ron A Wevers; Cornelis Jakobs
What have we here? A man or a fish?
Lancet 2010;376(9753):1710.
2010: 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; Cornelis Jakobs; Eva Morava; Ron A Wevers
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Biochimica et biophysica acta 2010;1802(11):1028-35.
2010: Martijn Kranendijk; Eduard A Struys; Emile Van Schaftingen; K Michael Gibson; Warsha A Kanhai; Marjo S van der Knaap; Jeanne Amiel; Neil R Buist; Anibh M Das; Johannis B de Klerk; Annette S Feigenbaum; Dorothy K Grange; Floris C Hofstede; Elisabeth Holme; Edwin P Kirk; Stanley H Korman; Eva Morava; Andrew Morris; jan smeitink; Rám N Sukhai; Hilary Vallance; Cornelis Jakobs; Gajja S Salomons
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Science (New York, N.Y.) 2010;330(6002):336.
2010: Irene V Bijnsdorp; K Azijli; Erwin E W Jansen; Mirjam M C Wamelink; Cornelis Jakobs; Eduard A Struys; Masakazu Fukushima; Frank A E Kruyt; Godefridus J Peters
Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cells.
Biochemical pharmacology 2010;80(6):786-92.
2010: Mirjam M C Wamelink; Nana-Maria Grüning; Erwin E W Jansen; Katharina Bluemlein; Hans Lehrach; Cornelis Jakobs; Markus Ralser
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
Journal of molecular medicine (Berlin, Germany) 2010;88(9):931-9.
2010: Philippa B Mills; Emma J Footitt; Kevin A Mills; Karin Tuschl; Sarah Aylett; Sophia Varadkar; Cheryl Hemingway; Neil Marlow; Janet Rennie; Peter Baxter; Olivier Dulac; Rima Nabbout; William J Craigen; Bernhard Schmitt; François Feillet; Ernst Christensen; Pascale de Lonlay; Mike G Pike; M Imelda Hughes; Eduard A Struys; Cornelis Jakobs; Sameer M Zuberi; Peter T Clayton
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Brain : a journal of neurology 2010;133(Pt 7):2148-59.
2010: Bernhard Schmitt; Matthias Baumgartner; Philippa B Mills; Peter T Clayton; Cornelis Jakobs; Elmar Keller; Gabriele Wohlrab
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Developmental medicine and child neurology 2010;52(7):e133-42.
2010: Hong N Bui; Eduard A Struys; Frans Martens; Willem de Ronde; Linda M Thienpont; Peter Kenemans; Marieke O Verhoeven; Cornelis Jakobs; Hilde M Dijstelbloem; Marinus A Blankenstein
Serum testosterone levels measured by isotope dilution-liquid chromatography-tandem mass spectrometry in postmenopausal women versus those in women who underwent bilateral oophorectomy.
Annals of clinical biochemistry 2010;47(Pt 3):248-52.
2010: 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 Zschocke; Benito A Yard
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity.
Amino acids 2010;38(5):1607-15.
2010: Martijn Kranendijk; Eduard A Struys; K Michael Gibson; Wjera V Wickenhagen; Jose E Abdenur; Jochen Buechner; Ernst Christensen; Raquel Dodelson de Kremer; a Errami; Paul Gissen; Wanda Gradowska; Emma Hobson; Lily Islam; Stanley H Korman; Thaddeus Kurczynski; Bruno Maranda; Concetta Meli; Cristiano Rizzo; Claude Sansaricq; Friedrich K Trefz; Rachel Webster; Cornelis Jakobs; Gajja S Salomons
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Human mutation 2010;31(3):279-83.
2010: Levinus A Bok; Jasper Been; Eduard A Struys; Cornelis Jakobs; Elisabeth A M Rijper; Michèl A A P Willemsen
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.
European journal of pediatrics 2010;169(3):297-303.
2010: Eduard A Struys; Cornelis Jakobs
Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation.
FEBS letters 2010;584(1):181-6.
2009: M Kranendijk; Gajja S Salomons; K Michael Gibson; C Aktuglu-Zeybek; S Bekri; E Christensen; J Clarke; A Hahn; Stanley H Korman; Vlatka Mejaski-Bosnjak; andrea superti-furga; C Vianey-Saban; Marjo S van der Knaap; Cornelis Jakobs; Eduard A Struys
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Journal of inherited metabolic disease 2009;32(6):713-9.
2009: Efraim H. Rosenberg; Eduard A Struys; Keith Hyland; Barbara Plecko; Paula J Waters; Saadet Mercimek-Mahmutoglu; Sylvia Stockler-Ipsiroglu; Renata C Gallagher; Gunter Scharer; Johan L K Van Hove; Cornelis Jakobs; Gajja S Salomons
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Molecular genetics and metabolism 2009;97(4):312-4.
2009: Jan P Kraus; Jindrich Hasek; Viktor Kozich; Renata Collard; Sarah Venezia; Bohumila Janosíková; Jian Wang; Sally P Stabler; Robert H Allen; Cornelis Jakobs; Christine T Finn; Yin-Hsiu Chien; Wuh-Liang Hwu; Robert A Hegele; S Harvey Mudd
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Molecular genetics and metabolism 2009;97(4):250-9.
2009: Markus Ralser; Mirjam M C Wamelink; Simone Latkolik; Erwin E W Jansen; Hans Lehrach; Cornelis Jakobs
Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response.
Nature biotechnology 2009;27(7):604-5.
2009: Marjan E Steenweg; Gajja S Salomons; Zuhal Yapici; Graziella Uziel; Emmanuel Scalais; Dimitrios I Zafeiriou; Maria L Ruiz-Falco; Vlatka Mejaski-Bosnjak; Persephone Augoustides-Savvopoulou; Moacir Wajner; John Walter; Nanda M Verhoeven-Duif; Eduard A Struys; Cornelis Jakobs; Marjo S van der Knaap
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Radiology 2009;251(3):856-65.
2009: Amy K Goodwin; P Rand Brown; E E W Jansen; Cornelis Jakobs; K Michael Gibson; Elise M Weerts
Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboons.
Psychopharmacology 2009;204(3):465-76.
2009: Anna Tylki-Szymańska; Teresa J Stradomska; Mirjam M C Wamelink; Gajja S Salomons; Joanna Taybert; Joanna Pawłowska; Cornelis Jakobs
Transaldolase deficiency in two new patients with a relative mild phenotype.
Molecular genetics and metabolism 2009;97(1):15-7.
2009: Renata C Gallagher; Johan L K Van Hove; Gunter Scharer; Keith Hyland; Barbara Plecko; Paula J Waters; Saadet Mercimek-Mahmutoglu; Sylvia Stockler-Ipsiroglu; Gajja S Salomons; Efraim H. Rosenberg; Eduard A Struys; Cornelis Jakobs
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Annals of neurology 2009;65(5):550-6.
2009: Charlotte E Teunissen; E Iacobaeus; Mohsen Khademi; L Brundin; N Norgren; M J A Koel-Simmelink; M Schepens; Femke H Bouwman; H A M Twaalfhoven; H J Blom; Cornelis Jakobs; Christine D Dijkstra
Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.
Neurology 2009;72(15):1322-9.
2009: W V Wickenhagen; Gajja S Salomons; K Michael Gibson; Cornelis Jakobs; Eduard A Struys
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
Journal of inherited metabolic disease 2009;32(2):264-8.
2009: Saadet Mercimek-Mahmutoglu; Adolf Muehl; Gajja S Salomons; Birgit Neophytou; Dorothea Moeslinger; Eduard Struys; Olaf Bodamer; Cornelis Jakobs; Sylvia Stockler-Ipsiroglu
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Molecular genetics and metabolism 2009;96(4):273-5.
2009: 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
Circulating oxidized LDL: determinants and association with brachial flow-mediated dilation.
Journal of lipid research 2009;50(2):342-9.
2009: Patrizia Malaspina; Matthew J Picklo; Cornelis Jakobs; O Carter Snead; K Michael Gibson
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
Human genomics 2009;3(2):106-20.
2008: Mirjam M C Wamelink; Eduard A Struys; Cornelis Jakobs
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.
Journal of inherited metabolic disease 2008;31(6):703-17.
2008: Cornelis Jakobs
Opening editorial 'The Garrod Day'.
Journal of inherited metabolic disease 2008;31(5):557.
2008: Cornelis Jakobs
The Komrower Memorial Lecture 2008.
Journal of inherited metabolic disease 2008;31(5):641-2.
2008: W Kortmann; Michiel A van Agtmael; J van Diessen; B L J Kanen; Cornelis Jakobs; Prabath W B Nanayakkara
5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors.
The Netherlands journal of medicine 2008;66(8):354-7.
2008: Cristina Martínez-Muñoz; Efraim H. Rosenberg; Cornelis Jakobs; Gajja S Salomons
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
Gene 2008;418(1-2):53-9.
2008: Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H. Rosenberg; Arjan de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Neurogenetics 2008;9(3):183-90.
2008: Mirjam M C Wamelink; Eduard A Struys; Gajja S Salomons; Darren Fowler; Cornelis Jakobs; Peter T Clayton
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Molecular genetics and metabolism 2008;94(2):255-8.
2008: Mirjam M C Wamelink; Eduard A Struys; Vassili Valayannopoulos; Marie Gonzales; Jean-Marie Saudubray; Cornelis Jakobs
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
Prenatal diagnosis 2008;28(5):460-2.
2008: Mirjam M C Wamelink; Eduard A Struys; Erwin E W Jansen; Elena N Levtchenko; Fokje S M Zijlstra; Udo Engelke; Henk J Blom; Cornelis Jakobs; Ron A Wevers
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Human mutation 2008;29(4):532-6.
2008: Manon V Van Hecke; Jacqueline M Dekker; Giel Nijpels; Tom Teerlink; Cornelis Jakobs; Ronald P Stolk; Rob J Heine; Lex M Bouter; Bettine C P Polak; Coen D A Stehouwer
Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine are associated with retinal microvascular abnormalities: the Hoorn Study.
Clinical science (London, England : 1979) 2008;114(7):479-87.
2008: Rossana Mirabella; Han Rauwerda; Eduard A Struys; Cornelis Jakobs; Christian Triantaphylidès; Michel A Haring; Robert C Schuurink
The Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness.
The Plant journal : for cell and molecular biology 2008;53(2):197-213.
2007: Eduard A Struys; K Michael Gibson; Cornelis Jakobs
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.
Journal of inherited metabolic disease 2007;30(5):690-3.
2007: Gajja S Salomons; Levinus A Bok; Eduard A Struys; Lorna Landegge Pope; Patricia S Darmin; Philippa B Mills; Peter T Clayton; Michèl A A P Willemsen; Cornelis Jakobs
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Annals of neurology 2007;62(4):414-8.
2007: Mirjam M C Wamelink; D E C Smith; Erwin E W Jansen; Nanda M Verhoeven; Eduard A Struys; Cornelis Jakobs
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
Journal of inherited metabolic disease 2007;30(5):735-42.
2007: Yvo M Smulders; Desiree E C Smith; Robert M Kok; Tom Teerlink; Henkjan Gellekink; Wouter H J Vaes; Coen D A Stehouwer; Cornelis Jakobs
Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status.
The Journal of nutritional biochemistry 2007;18(10):693-9.
2007: Efraim H. Rosenberg; Cristina Martínez Muñoz; Ofir T Betsalel; Silvy J M van Dooren; Matilde Fernandez; Cornelis Jakobs; Ton J DeGrauw; Tjitske Kleefstra; Charles E Schwartz; Gajja S Salomons
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Human mutation 2007;28(9):890-6.
2007: Eduard A Struys; Cornelis Jakobs
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Molecular genetics and metabolism 2007;91(4):405.
2007: Jessica A Sipkens; P A J Krijnen; Christof Meischl; Saskia A G M Cillessen; Yvo M Smulders; Desirée E C Smith; Cindy P E Giroth; Marieke D Spreeuwenberg; René J P Musters; Alice Muller; Cornelis Jakobs; Dirk Roos; Coen D A Stehouwer; Jan A Rauwerda; Victor W M van Hinsbergh; Hans W M Niessen
Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis.
Apoptosis : an international journal on programmed cell death 2007;12(8):1407-18.
2007: Levinus A Bok; Eduard A Struys; Michèl A A P Willemsen; Jasper Been; Cornelis Jakobs
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
Archives of disease in childhood 2007;92(8):687-9.
2007: Cees Mulder; Wiesje M van der Flier; Robert Veerhuis; Femke H Bouwman; Cornelis Jakobs; Nanda M Verhoeven; Frederik Barkhof; Philip scheltens; Marinus A Blankenstein
Association between vitamin B6 and white matter hyperintensities in patients with Alzheimer's disease not mediated by homocysteine metabolism.
Journal of the American Geriatrics Society 2007;55(6):956-8.
2007: jasperse bas; Cornelis Jakobs; M Judith Eikelenboom; Christine D Dijkstra; Bernard Uitdehaag; Frederik Barkhof; Chris H Polman; Charlotte E Teunissen
N-acetylaspartic acid in cerebrospinal fluid of multiple sclerosis patients determined by gas-chromatography-mass spectrometry.
Journal of neurology 2007;254(5):631-7.
2007: Lígia Almeida; Laura Vilarinho; Patricia S Darmin; Efraim H. Rosenberg; C Martinez-Muñoz; Cornelis Jakobs; Gajja S Salomons
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
Molecular genetics and metabolism 2007;91(1):1-6.
2007: Sven W Sauer; Stefan Kölker; Georg F Hoffmann; Herman J Ten Brink; Cornelis Jakobs; K Michael Gibson; Jürgen G Okun
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
Neurochemistry international 2007;50(4):653-9.
2007: 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
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(2):81-9.
2007: Gajja S Salomons; Cornelis Jakobs; L Landegge Pope; a Errami; M Potter; M Nowaczyk; S Olpin; N Manning; J A J Raiman; T Slade; M P Champion; D Peck; D Gavrilov; R Hillman; George Hoganson; K Donaldson; J P H Shield; D Ketteridge; M Wasserstein; K Michael Gibson
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Journal of inherited metabolic disease 2007;30(1):23-8.
2007: Markus Ralser; Mirjam M Wamelink; Axel Kowald; Birgit Gerisch; Gino Heeren; Eduard A Struys; Edda Klipp; Cornelis Jakobs; Michael Breitenbach; Hans Lehrach; Sylvia Krobitsch
Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress.
Journal of biology 2007;6(4):10.
2007: Robert M Kok; Desirée E C Smith; Rob Barto; Annemieke M W Spijkerman; Tom Teerlink; Henkjan Gellekink; Cornelis Jakobs; Yvo M Smulders
Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2007;45(7):903-11.
2007: Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard A Struys; Cornelis Jakobs; Hans Hartmann; Thomas Luecke; Matteo di Capua; Christoph Korenke; Christiane Hikel; Elke Reutershahn; Michael Freilinger; Fritz Baumeister; Friedrich Bosch; Wolfgang Erwa
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Human mutation 2007;28(1):19-26.
2006: Lígia Almeida; Efraim H. Rosenberg; C Martinez-Muñoz; Nanda M Verhoeven; Laura Vilarinho; Cornelis Jakobs; Gajja S Salomons
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
Molecular genetics and metabolism 2006;89(4):392-4.
2006: Amy K Goodwin; Roland R Griffiths; P Rand Brown; Wolfgang Froestl; Cornelis Jakobs; K Michael Gibson; Elise M Weerts
Chronic intragastric administration of gamma-butyrolactone produces physical dependence in baboons.
Psychopharmacology 2006;189(1):71-82.
2006: Saadet Mercimek-Mahmutoglu; Sylvia Stoeckler-Ipsiroglu; A Adami; Richard E Appleton; H Caldeira Araújo; M Duran; Regina Ensenauer; E Fernandez-Alvarez; P Garcia; C Grolik; Chike Item; Vincenzo Leuzzi; Iris Marquardt; Adolf Mühl; R A Saelke-Kellermann; Gajja S Salomons; Andreas Schulze; R Surtees; Marjo S van der Knaap; R Vasconcelos; N M Verhoeven; Laura Vilarinho; Ekkehard Wilichowski; Cornelis Jakobs
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Neurology 2006;67(3):480-4.
2006: Lígia Almeida; Gajja S Salomons; Francois Hogenboom; Cornelis Jakobs; Anton N M Schoffelmeer
Exocytotic release of creatine in rat brain.
Synapse (New York, N.Y.) 2006;60(2):118-23.
2006: Amy J Clark; Efraim H. Rosenberg; Lígia Almeida; Tim C Wood; Cornelis Jakobs; Roger E Stevenson; Charles E Schwartz; Gajja S Salomons
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Human genetics 2006;119(6):604-10.
2006: Eduard A Struys; Nanda M Verhoeven; Gajja S Salomons; J Berthelot; C Vianay-Saban; S Chabrier; J A Thomas; A Chun-Hui Tsai; K Michael Gibson; Cornelis Jakobs
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Molecular genetics and metabolism 2006;88(1):53-7.
2006: Efraim H. Rosenberg; Cristina Martínez Muñoz; Ton J DeGrauw; Cornelis Jakobs; Gajja S Salomons
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
Journal of inherited metabolic disease 2006;29(2-3):345-6.
2006: Erwin E W Jansen; Nanda M Verhoeven; Cornelis Jakobs; Andreas Schulze; Henry Senephansiri; Maneesh Gupta; O Carter Snead; K Michael Gibson
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency.
Biochimica et biophysica acta 2006;1762(4):494-8.
2006: Philippa B Mills; Eduard A Struys; Cornelis Jakobs; Barbara Plecko; Peter Baxter; Matthias Baumgartner; Michèl A A P Willemsen; Heymut Omran; Uta Tacke; Birgit Uhlenberg; Bernhard Weschke; Peter T Clayton
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nature medicine 2006;12(3):307-9.
2006: Yvo M Smulders; D E C Smith; Robert M Kok; Tom Teerlink; D W Swinkels; C D A Stehouwer; Cornelis Jakobs
Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap.
British journal of haematology 2006;132(5):623-9.
2006: Marjo S van der Knaap; V Ramesh; R Schiffmann; S Blaser; M Kyllerman; A Gholkar; D W Ellison; J Patrick van der Voorn; Silvy J M van Dooren; Cornelis Jakobs; Frederik Barkhof; Gajja S Salomons
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
Neurology 2006;66(4):494-8.
2006: Elizabeth A Donarum; Dietrich A Stephan; Kay Larkin; Eric J Murphy; Maneesh Gupta; Henry Senephansiri; Robert C Switzer; Phillip L Pearl; O Carter Snead; Cornelis Jakobs; K Michael Gibson
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Journal of inherited metabolic disease 2006;29(1):143-56.
2006: Rita Castro; Isabel Rivera; Henk J Blom; Cornelis Jakobs; Isabel Tavares de Almeida
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview.
Journal of inherited metabolic disease 2006;29(1):3-20.
2006: Erwin E W Jansen; K Michael Gibson; Yosuke Shigematsu; Cornelis Jakobs; Nanda M Verhoeven
A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2006;830(2):196-200.
2006: Desirée E C Smith; Robert M Kok; Tom Teerlink; Cornelis Jakobs; Yvo M Smulders
Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2006;44(4):450-9.
2005: Kees de Meer; Yvo M Smulders; Jack R Dainty; D E C Smith; Robert M Kok; C D A Stehouwer; Paul M Finglas; Cornelis Jakobs
[6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adults.
European journal of clinical nutrition 2005;59(12):1409-16.
2005: Nanda M Verhoeven; Gajja S Salomons; Cornelis Jakobs
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Clinica chimica acta; international journal of clinical chemistry 2005;361(1-2):1-9.
2005: Stanley H Korman; Hans R Waterham; Alisa Gutman; Cornelis Jakobs; Ronald J A Wanders
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Molecular genetics and metabolism 2005;86(3):337-43.
2005: Laura Vilarinho; Maria Luís Cardoso; P Gaspar; Clara Barbot; Luísa Azevedo; Luísa Diogo; Manuela Santos; I Carrilho; I Fineza; F Kok; R Chorão; P Alegria; Esmeralda Martins; J Teixeira; H Cabral Fernandes; Nanda M Verhoeven; Gajja S Salomons; Filippo M Santorelli; P Cabral; António Amorim; Cornelis Jakobs
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Human mutation 2005;26(4):395-6.
2005: Eduard A Struys; Stanley H Korman; Gajja S Salomons; Patricia S Darmin; Younes Achouri; Emile Van Schaftingen; Nanda M Verhoeven; Cornelis Jakobs
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Annals of neurology 2005;58(4):626-30.
2005: Rita Castro; Isabel Rivera; Carla Martins; Eduard A Struys; Erwin E W Jansen; Nuno Clode; Luís M Graça; Henk J Blom; Cornelis Jakobs; Isabel Tavares de Almeida
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.
Journal of molecular medicine (Berlin, Germany) 2005;83(10):831-6.
2005: Cees Mulder; Niki S M Schoonenboom; Erwin E W Jansen; Nanda M Verhoeven; Gerard J van Kamp; Cornelis Jakobs; Philip scheltens
The transmethylation cycle in the brain of Alzheimer patients.
Neuroscience letters 2005;386(2):69-71.
2005: K Michael Gibson; Cornelis Jakobs; Phillip L Pearl; O Carter Snead
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.
IUBMB life 2005;57(9):639-44.
2005: Mirjam M C Wamelink; Eduard A Struys; Jojanneke H J Huck; Birthe Roos; Marjo S van der Knaap; Cornelis Jakobs; Nanda M Verhoeven
Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2005;823(1):18-25.
2005: Maria Luís Cardoso; A Balreira; Esmeralda Martins; L Nunes; A Cabral; M Marques; M Reis Lima; J S Marques; Ana Medeira; Isabel Cordeiro; S Pedro; M C Mota; Carlo Dionisi Vici; Filippo M Santorelli; Cornelis Jakobs; P T Clayton; Laura Vilarinho
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Molecular genetics and metabolism 2005;85(3):228-35.
2005: H Gan-Schreier; Jürgen G Okun; D Kohlmueller; C-D Langhans; V Peters; Herman J Ten Brink; Nanda M Verhoeven; Cornelis Jakobs; A Voelkl; Georg F Hoffmann
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS).
Journal of mass spectrometry : JMS 2005;40(7):882-9.
2005: Barbara Plecko; Christiane Hikel; Georg Christoph Korenke; B Schmitt; Matthias Baumgartner; F Baumeister; Cornelis Jakobs; Eduard A Struys; Wolfgang Erwa; Sylvia Stöckler-Ipsiroglu
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Neuropediatrics 2005;36(3):200-5.
2005: Frank Stam; Yvo M Smulders; Coen Van Guldener; Cornelis Jakobs; Coen D A Stehouwer; Kees de Meer
Folic acid treatment increases homocysteine remethylation and methionine transmethylation in healthy subjects.
Clinical science (London, England : 1979) 2005;108(5):449-56.
2005: Elise M Weerts; Amy K Goodwin; Roland R Griffiths; P Rand Brown; Wolfgang Froestl; Cornelis Jakobs; K Michael Gibson
Spontaneous and precipitated withdrawal after chronic intragastric administration of gamma-hydroxybutyrate (GHB) in baboons.
Psychopharmacology 2005;179(3):678-87.
2005: Annemieke M W Spijkerman; Yvo M Smulders; Piet J Kostense; Ronald M A Henry; A Becker; Tom Teerlink; Cornelis Jakobs; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; C D A Stehouwer
S-adenosylmethionine and 5-methyltetrahydrofolate are associated with endothelial function after controlling for confounding by homocysteine: the Hoorn Study.
Arteriosclerosis, thrombosis, and vascular biology 2005;25(4):778-84.
2005: Raimond G V Smolders; Kees de Meer; Peter Kenemans; Cornelis Jakobs; Willem Kulik; Marius J van der Mooren
Oral estradiol decreases plasma homocysteine, vitamin B6, and albumin in postmenopausal women but does not change the whole-body homocysteine remethylation and transmethylation flux.
The Journal of clinical endocrinology and metabolism 2005;90(4):2218-24.
2005: Marjo S van der Knaap; Gajja S Salomons; Rong Li; Emilio Franzoni; Luiz González Gutiérrez-Solana; Leo M E Smit; Richard Robinson; Collin D Ferrie; Bruce Cree; Alyssa Reddy; Neil Thomas; Brenda Banwell; Frederik Barkhof; Cornelis Jakobs; Anne Johnson; Albee Messing; Michael Brenner
Unusual variants of Alexander's disease.
Annals of neurology 2005;57(3):327-38.
2005: H Caldeira Araújo; W Smit; N M Verhoeven; Gajja S Salomons; S Silva; R Vasconcelos; Helena Tomás; I Tavares de Almeida; Cornelis Jakobs; M Duran
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
American journal of medical genetics. Part A 2005;133A(2):122-7.
2005: Michiel J S Oosterveld; Reinoud J B J Gemke; Jack R Dainty; Willem Kulik; Cornelis Jakobs; Kees de Meer
Minimal sampling protocol for accurate estimation of urea production: a study with oral [13C]urea in fed and fasted piglets.
Clinical nutrition (Edinburgh, Scotland) 2005;24(1):97-104.
2005: Eduard A Struys; Gajja S Salomons; Younes Achouri; Emile Van Schaftingen; Grosso Salvatore; William J Craigen; Nanda M Verhoeven; Cornelis Jakobs
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
American journal of human genetics 2005;76(2):358-60.
2005: Mirjam M C Wamelink; D E C Smith; Cornelis Jakobs; Nanda M Verhoeven
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.
Journal of inherited metabolic disease 2005;28(6):951-63.
2005: Eduard A Struys; Nanda M Verhoeven; Herman J Ten Brink; W V Wickenhagen; K Michael Gibson; Cornelis Jakobs
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.
Journal of inherited metabolic disease 2005;28(6):921-30.
2005: Eduard A Struys; Erwin E W Jansen; K Michael Gibson; Cornelis Jakobs
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.
Journal of inherited metabolic disease 2005;28(6):913-20.
2005: Barbara Plecko; H Hoeger; Cornelis Jakobs; Eduard A Struys; Carmen Stromberger; M Leschnik; A Muehl; Sylvia Stoeckler-Ipsiroglu
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
Journal of inherited metabolic disease 2005;28(5):689-93.
2005: Nanda M Verhoeven; Michael A Wallot; Jojanneke H J Huck; O Dirsch; A Ballauf; U Neudorf; Gajja S Salomons; Marjo S van der Knaap; Thomas Voit; Cornelis Jakobs
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Journal of inherited metabolic disease 2005;28(2):169-79.
2005: Frank Stam; Coen Van Guldener; Piet M ter Wee; Cornelis Jakobs; Kees de Meer; Coen D A Stehouwer
Effect of folic acid on methionine and homocysteine metabolism in end-stage renal disease.
Kidney international 2005;67(1):259-64.
2004: Raimond G V Smolders; Kees de Meer; Peter Kenemans; Tom Teerlink; Cornelis Jakobs; Marius J van der Mooren
Hormone replacement influences homocysteine levels in the methionine-loading test: a randomized placebo controlled trial in postmenopausal women.
European journal of obstetrics, gynecology, and reproductive biology 2004;117(1):55-9.
2004: Margarida F B Silva; Lodewijk IJlst; Paul Allers; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria.
Drug metabolism and disposition: the biological fate of chemicals 2004;32(11):1304-10.
2004: Carla Valongo; Maria Luís Cardoso; Pedro Domingues; Lígia Almeida; Nanda M Verhoeven; Gajja S Salomons; Cornelis Jakobs; Laura Vilarinho
Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2004;348(1-2):155-61.
2004: Frank Stam; Coen Van Guldener; Piet M ter Wee; Willem Kulik; Desirée E C Smith; Cornelis Jakobs; Coen D A Stehouwer; Kees de Meer
Homocysteine clearance and methylation flux rates in health and end-stage renal disease: association with S-adenosylhomocysteine.
American journal of physiology. Renal physiology 2004;287(2):F215-23.
2004: Maneesh Gupta; M Polinsky; Henry Senephansiri; O Carter Snead; Erwin E W Jansen; Cornelis Jakobs; K Michael Gibson
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency.
Neurobiology of disease 2004;16(3):556-62.
2004: Eduard A Struys; Erwin E W Jansen; Nanda M Verhoeven; Cornelis Jakobs
Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride.
Clinical chemistry 2004;50(8):1391-5.
2004: Jojanneke H J Huck; Birthe Roos; Cornelis Jakobs; Marjo S van der Knaap; Nanda M Verhoeven
Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.
Molecular genetics and metabolism 2004;82(3):231-7.
2004: Lígia Almeida; Nanda M Verhoeven; Birthe Roos; Carla Valongo; Maria Luís Cardoso; Laura Vilarinho; Gajja S Salomons; Cornelis Jakobs
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
Molecular genetics and metabolism 2004;82(3):214-9.
2004: Efraim H. Rosenberg; Lígia Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J DeGrauw; Cornelis Jakobs; Gajja S Salomons
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Jojanneke H J Huck; Nanda M Verhoeven; Johanna M van Hagen; Cornelis Jakobs; Marjo S van der Knaap
Clinical presentations of patients with polyol abnormalities.
Neuropediatrics 2004;35(3):167-73.
2004: Stanley H Korman; Gajja S Salomons; Alisa Gutman; R Brooks; Cornelis Jakobs
D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
Neuropediatrics 2004;35(3):151-6.
2004: Rita Castro; Isabel Rivera; Paula Ravasco; Maria Ermelinda Camilo; Cornelis Jakobs; Henk J Blom; Isabel Tavares de Almeida
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation.
Journal of medical genetics 2004;41(6):454-8.
2004: Maneesh Gupta; Erwin E W Jansen; Henry Senephansiri; Cornelis Jakobs; O Carter Snead; Markus Grompe; K Michael Gibson
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;9(4):527-39.
2004: Coert J Zuurbier; Otto Eerbeek; P T Goedhart; E A Struys; Nanda M Verhoeven; Cornelis Jakobs; Can Ince
Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart.
Cardiovascular research 2004;62(1):145-53.
2004: Jojanneke H J Huck; Nanda M Verhoeven; Eduard A Struys; Gajja S Salomons; Cornelis Jakobs; Marjo S van der Knaap
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
American journal of human genetics 2004;74(4):745-51.
2004: Robert M Kok; D E C Smith; Jack R Dainty; J T Van Den Akker; Paul M Finglas; Yvo M Smulders; Cornelis Jakobs; Kees de Meer
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolism.
Analytical biochemistry 2004;326(2):129-38.
2004: Nanda M Verhoeven; Birthe Roos; Eduard A Struys; Gajja S Salomons; Marjo S van der Knaap; Cornelis Jakobs
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
Clinical chemistry 2004;50(2):441-3.
2004: Eduard A Struys; Nanda M Verhoeven; Henri Brunengraber; Cornelis Jakobs
Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria.
FEBS letters 2004;557(1-3):115-20.
2004: Dennis C W Poland; Willem Kulik; Willem Van Dijk; Marcella M Hallemeesch; Cornelis Jakobs; Kees de Meer
Distinct glycoforms of human alpha1-acid glycoprotein have comparable synthesis rates: a [13C]valine-labelling study in healthy humans.
Glycoconjugate journal 2004;20(2):99-105.
2003: Shinjiro Akaboshi; Boris M Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja S Salomons; George D Maropoulos; Cornelis Jakobs; Markus Grompe; K Michael Gibson
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Human mutation 2003;22(6):442-50.
2003: K Michael Gibson; Maneesh Gupta; Phillip L Pearl; Mendel Tuchman; L Gilbert Vezina; O Carter Snead; Leo M E Smit; Cornelis Jakobs
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
Biological psychiatry 2003;54(7):763-8.
2003: A Becker; Ronald M A Henry; Piet J Kostense; Cornelis Jakobs; Tom Teerlink; Sonja Zweegman; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; Yvo M Smulders; C D A Stehouwer
Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness: different effects in diabetic and non-diabetic individuals. The Hoorn Study.
Atherosclerosis 2003;169(2):323-30.
2003: Jojanneke H J Huck; Eduard A Struys; Nanda M Verhoeven; Cornelis Jakobs; Marjo S van der Knaap
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
Clinical chemistry 2003;49(8):1375-80.
2003: Rita Castro; Isabel Rivera; Eduard A Struys; Erwin E W Jansen; Paula Ravasco; Maria Ermelinda Camilo; Henk J Blom; Cornelis Jakobs; Isabel Tavares de Almeida
Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease.
Clinical chemistry 2003;49(8):1292-6.
2003: Eduard A Struys; Nanda M Verhoeven; Birthe Roos; Cornelis Jakobs
Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
Clinical chemistry 2003;49(7):1133-8.
2003: Stefan Kölker; Georg F Hoffmann; D S M Schor; Patrik Feyh; L Wagner; I Jeffrey; morteza pourfarzam; Jürgen G Okun; Johannes Zschocke; I Baric; Murray D Bain; Cornelis Jakobs; Ronald A Chalmers
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Neuropediatrics 2003;34(5):253-60.
2003: Nanda M Verhoeven; D S M Schor; Birthe Roos; Roberta Battini; Sylvia Stöckler-Ipsiroglu; Gajja S Salomons; Cornelis Jakobs
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.
Clinical chemistry 2003;49(5):803-5.
2003: Rita Castro; Isabel Rivera; Paula Ravasco; Cornelis Jakobs; Henk J Blom; Maria Ermelinda Camilo; Isabel Tavares de Almeida
5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine.
QJM : monthly journal of the Association of Physicians 2003;96(4):297-303.
2003: Johannes van Rijn; Jaap Van Den Berg; Tom Teerlink; Frank A E Kruyt; D S M Schor; A C Renardel de Lavalette; Timo K van den Berg; Cornelis Jakobs; Ben Slotman
Changes in the ornithine cycle following ionising radiation cause a cytotoxic conditioning of the culture medium of H35 hepatoma cells.
British journal of cancer 2003;88(3):447-54.
2003: Maneesh Gupta; Boris M Hogema; Markus Grompe; Teodoro Bottiglieri; Alessandra Concas; Giovanni Biggio; Cristiana Sogliano; Antonello E Rigamonti; Phillip L Pearl; O Carter Snead; Cornelis Jakobs; K Michael Gibson
Murine succinate semialdehyde dehydrogenase deficiency.
Annals of neurology 2003;54 Suppl 6():S81-90.
2003: Gajja S Salomons; Silvy J M van Dooren; Nanda M Verhoeven; D Marsden; C Schwartz; Kim M Cecil; Ton J DeGrauw; Cornelis Jakobs
X-linked creatine transporter defect: an overview.
Journal of inherited metabolic disease 2003;26(2-3):309-18.
2003: A Becker; Yvo M Smulders; Tom Teerlink; Eduard A Struys; Kees de Meer; Piet J Kostense; Cornelis Jakobs; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; C D A Stehouwer
S-adenosylhomocysteine and the ratio of S-adenosylmethionine to S-adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrations.
European journal of clinical investigation 2003;33(1):17-25.
2002: D S M Schor; Nanda M Verhoeven; Eduard A Struys; Herman J Ten Brink; Cornelis Jakobs
Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2002;780(1):199-204.
2002: Paola Blasi; Pietro Pilo Boyl; Mario Ledda; Andrea Novelletto; K Michael Gibson; Cornelis Jakobs; Boris M Hogema; Shinjiro Akaboshi; Fabrizio Loreni; Patrizia Malaspina
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Molecular genetics and metabolism 2002;76(4):348-62.
2002: Rita Castro; Eduard A Struys; Erwin E W Jansen; Henk J Blom; Isabel Tavares de Almeida; Cornelis Jakobs
Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology.
Journal of pharmaceutical and biomedical analysis 2002;29(5):963-8.
2002: Denise Li-Meng Goh; Ankita Patel; George H Thomas; Gajja S Salomons; D S M Schor; Cornelis Jakobs; Michael T Geraghty
Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).
Molecular genetics and metabolism 2002;76(3):172-80.
2002: Maneesh Gupta; Rachel Greven; Erwin E W Jansen; Cornelis Jakobs; Boris M Hogema; Wolfgang Froestl; O Carter Snead; Hilke Bartels; Markus Grompe; K Michael Gibson
Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).
The Journal of pharmacology and experimental therapeutics 2002;302(1):180-7.
2002: Chike Item; Carmen Stromberger; Adolf Mühl; Claudia Edlinger; Olaf Bodamer; Andreas Schulze; Robert Surtees; Vincenzo Leuzzi; Gajja S Salomons; Cornelis Jakobs; Sylvia Stöckler-Ipsiroglu
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Clinical chemistry 2002;48(5):767-9.
2002: Kimberly A Hahn; Gajja S Salomons; Darci Tackels-Horne; Tim C Wood; Harold A Taylor; Richard J Schroer; Herbert A Lubs; Cornelis Jakobs; Rick L Olson; Kenton R Holden; Roger E Stevenson; Charles E Schwartz
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
American journal of human genetics 2002;70(5):1349-56.
2002: K Michael Gibson; D S M Schor; Maneesh Gupta; W S Guerand; Henry Senephansiri; Terry Burlingame; H Bartels; Boris M Hogema; Teodoro Bottiglieri; Wolfgang Froestl; O Carter Snead; Markus Grompe; Cornelis Jakobs
Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase.
Journal of neurochemistry 2002;81(1):71-9.
2002: Margarida F B Silva; Jos P N Ruiter; Henk Overmars; Albert H Bootsma; Albert H van Gennip; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase.
The Biochemical journal 2002;362(Pt 3):755-60.
2001: Nanda M Verhoeven; Cornelis Jakobs
Human metabolism of phytanic acid and pristanic acid.
Progress in lipid research 2001;40(6):453-66.
2001: Boris M Hogema; Maneesh Gupta; Henry Senephansiri; Terry Burlingame; M Taylor; Cornelis Jakobs; RB Schutgens; Wolfgang Froestl; O Carter Snead; Ramon Diaz-Arrastia; Teodoro Bottiglieri; Markus Grompe; K Michael Gibson
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
Nature genetics 2001;29(2):212-6.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids.
Chemico-biological interactions 2001;137(3):203-12.
2001: Rita Castro; S G Heil; Isabel Rivera; Cornelis Jakobs; Isabel Tavares de Almeida; Henk J Blom
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
Clinical genetics 2001;60(2):161-3.
2001: Margarida F B Silva; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.
Molecular genetics and metabolism 2001;73(4):358-61.
2001: Gajja S Salomons; Silvy J M van Dooren; Nanda M Verhoeven; Kim M Cecil; W S Ball; Ton J DeGrauw; Cornelis Jakobs
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
American journal of human genetics 2001;68(6):1497-500.
2001: Nanda M Verhoeven; Jojanneke H J Huck; Birthe Roos; Eduard A Struys; Gajja S Salomons; AC Douwes; Marjo S van der Knaap; Cornelis Jakobs
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
American journal of human genetics 2001;68(5):1086-92.
2001: Willem Van Dijk; Carolien A M Koeleman; Bert Van het Hof; Dennis C W Poland; Cornelis Jakobs; J Jaeken
Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia).
FEBS letters 2001;494(3):232-5.
2001: Boris M Hogema; Shinjiro Akaboshi; M Taylor; Gajja S Salomons; Cornelis Jakobs; RB Schutgens; B Wilcken; S Worthington; George D Maropoulos; Markus Grompe; K Michael Gibson
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
Molecular genetics and metabolism 2001;72(3):218-22.
2001: D S M Schor; Eduard A Struys; Boris M Hogema; K Michael Gibson; Cornelis Jakobs
Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical.
Clinical chemistry 2001;47(3):525-31.
2001: Margarida F B Silva; Jos P N Ruiter; Lodewijk IJlst; Paul Allers; Herman J Ten Brink; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.
Analytical biochemistry 2001;290(1):60-7.
2001: Enrico Lopriore; Reinoud J B J Gemke; Nanda M Verhoeven; Cornelis Jakobs; RJ Wanders; A B Roeleveld-Versteeg; B T Poll-The
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
European journal of pediatrics 2001;160(2):101-4.
2000: Nanda M Verhoeven; WS Guérand; Eduard A Struys; Anneke A Bouman; Marjo S van der Knaap; Cornelis Jakobs
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
Journal of inherited metabolic disease 2000;23(8):835-40.
2000: EK Hoogeveen; Piet J Kostense; P E Eysink; Bettine C P Polak; P J Beks; Cornelis Jakobs; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; Coen D A Stehouwer
Hyperhomocysteinemia is associated with the presence of retinopathy in type 2 diabetes mellitus: the Hoorn study.
Archives of internal medicine 2000;160(19):2984-90.
2000: Eduard A Struys; Erwin E W Jansen; Kees de Meer; Cornelis Jakobs
Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry.
Clinical chemistry 2000;46(10):1650-6.
2000: Barbara Plecko; Sylvia Stöckler-Ipsiroglu; Eduard Paschke; Wolfgang Erwa; Eduard A Struys; Cornelis Jakobs
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Annals of neurology 2000;48(1):121-5.
2000: Gerbert Jansen; Simone Denis; Nanda M Verhoeven; Cornelis Jakobs; Ronald J A Wanders
Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.
Journal of inherited metabolic disease 2000;23(4):421-4.
2000: K Michael Gibson; Terry Burlingame; Boris M Hogema; Cornelis Jakobs; RB Schutgens; David S Millington; Charles R Roe; Diane S Roe; Lawrence Sweetman; Robert D Steiner; Leesa M Linck; P Pohowalla; M Sacks; D Kiss; Piero Rinaldo; Jerry Vockley
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
Pediatric research 2000;47(6):830-3.
2000: Gerbert Jansen; Eveline M Hogenhout; Sacha Ferdinandusse; Hans R Waterham; Rob Ofman; Cornelis Jakobs; OH Skjeldal; Ronald J A Wanders
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Human molecular genetics 2000;9(8):1195-200.
2000: EK Hoogeveen; Piet J Kostense; Cornelis Jakobs; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; Coen D A Stehouwer
Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study.
Circulation 2000;101(13):1506-11.
2000: EK Hoogeveen; Piet J Kostense; Cornelis Jakobs; Jan A Rauwerda; Jacqueline M Dekker; Giel Nijpels; Lex M Bouter; Robert J Heine; Coen D A Stehouwer
Hyperhomocysteinaemia is not associated with isolated crural arterial occlusive disease: The Hoorn Study.
Journal of internal medicine 2000;247(4):442-8.
2000: E G J Vermeulen; Jan A Rauwerda; P Erix; SC de Jong; Jos W R Twisk; Cornelis Jakobs; R J Witjes; Coen D A Stehouwer
Normohomocysteinaemia and vitamin-treated hyperhomocysteinaemia are associated with similar risks of cardiovascular events in patients with premature atherothrombotic cerebrovascular disease. A prospective cohort study.
The Netherlands journal of medicine 2000;56(4):138-46.
2000: E G J Vermeulen; Coen D A Stehouwer; Jos W R Twisk; M van den Berg; SC de Jong; Albert J C Mackaay; C M C van Campen; Frans C Visser; Cornelis Jakobs; E J Bulterjis; Jan A Rauwerda
Effect of homocysteine-lowering treatment with folic acid plus vitamin B6 on progression of subclinical atherosclerosis: a randomised, placebo-controlled trial.
Lancet 2000;355(9203):517-22.
2000: Willem Kulik; R M Kok; Kees de Meer; Cornelis Jakobs
Determination of isotopic enrichments of [1-13C]homocysteine, [1-13C]methionine and [2H3-methyl-1-13C]methionine in human plasma by gas chromatography-negative chemical ionization mass spectrometry.
Journal of chromatography. B, Biomedical sciences and applications 2000;738(1):99-105.
2000: CG Costa; WS Guérand; Eduard A Struys; U Holwerda; Herman J Ten Brink; Isabel Tavares de Almeida; Marinus Duran; Cornelis Jakobs
Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS.
Journal of pharmaceutical and biomedical analysis 2000;21(6):1215-24.
1999: EK Hoogeveen; Piet J Kostense; Gerlof D Valk; Frits W Bertelsmann; Cornelis Jakobs; Jacqueline M Dekker; Giel Nijpels; Robert J Heine; Lex M Bouter; Coen D A Stehouwer
Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: the Hoorn Study.
Journal of internal medicine 1999;246(6):561-6.
1999: D M Neele; C M F Kneepkens; Nanda M Verhoeven; Cornelis Jakobs
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.
Journal of inherited metabolic disease 1999;22(8):936-7.
1999: Gerbert Jansen; Rob Ofman; Simone Denis; Sacha Ferdinandusse; Eveline M Hogenhout; Cornelis Jakobs; Ronald J A Wanders
Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.
Journal of lipid research 1999;40(12):2244-54.
1999: Gerbert Jansen; Nanda M Verhoeven; Simone Denis; G Romeijn; Cornelis Jakobs; Herman J Ten Brink; Ronald J A Wanders
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes.
Biochimica et biophysica acta 1999;1440(2-3):176-82.
1999: Eduard A Struys; WS Guérand; Herman J Ten Brink; Cornelis Jakobs
Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry.
Journal of chromatography. B, Biomedical sciences and applications 1999;732(1):245-9.
1999: Coen Van Guldener; Willem Kulik; Ruud Berger; D A Dijkstra; Cornelis Jakobs; Dirk-Jan Reijngoud; A J M Donker; Coen D A Stehouwer; Kees de Meer
Homocysteine and methionine metabolism in ESRD: A stable isotope study.
Kidney international 1999;56(3):1064-71.
1999: M van den Berg; SC de Jong; W Devillé; Jan A Rauwerda; Cornelis Jakobs; Gerard Pals; G H Boers; Coen D A Stehouwer
Variability of fasting and post-methionine plasma homocysteine levels in normo- and hyperhomocysteinaemic individuals.
The Netherlands journal of medicine 1999;55(1):29-38.
1999: Willem Kulik; Cornelis Jakobs; Kees de Meer
Determination of extracellular and intracellular enrichments of [1-(13)C]-alpha-ketoisovalerate using enzymatically converted [1-(13)C]-valine standardization curves and gas chromatography-mass spectrometry.
Journal of chromatography. B, Biomedical sciences and applications 1999;729(1-2):211-6.
1999: Eduard A Struys; Cornelis Jakobs
Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography.
Journal of inherited metabolic disease 1999;22(5):677-8.
1999: SC de Jong; Coen D A Stehouwer; M van den Berg; Piet J Kostense; David J C Alders; Cornelis Jakobs; Gerard Pals; Jan A Rauwerda
Determinants of fasting and post-methionine homocysteine levels in families predisposed to hyperhomocysteinemia and premature vascular disease.
Arteriosclerosis, thrombosis, and vascular biology 1999;19(5):1316-24.
1999: Fátima V Ventura; CG Costa; Eduard A Struys; Jos P N Ruiter; Paul Allers; Lodewijk IJlst; Isabel Tavares de Almeida; Marinus Duran; Cornelis Jakobs; Ronald J A Wanders
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
Clinica chimica acta; international journal of clinical chemistry 1999;281(1-2):1-17.
1999: Nanda M Verhoeven; D S M Schor; Eduard A Struys; Erwin E W Jansen; RJ Wanders; Cornelis Jakobs
Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry.
Journal of lipid research 1999;40(2):260-6.
1999: Kees de Meer; Mark J Roef; Willem Kulik; Cornelis Jakobs
In vivo research with stable isotopes in biochemistry, nutrition and clinical medicine: an overview.
Isotopes in environmental and health studies 1999;35(1-2):19-37.
1999: Gerbert Jansen; Sacha Ferdinandusse; Eveline M Hogenhout; Nanda M Verhoeven; Cornelis Jakobs; Ronald J A Wanders
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Advances in experimental medicine and biology 1999;466():371-6.
1999: A B Coumans; P C Huijgens; Cornelis Jakobs; Roel Schats; Johanna I P de Vries; Marielle van Pampus; Gustaaf A Dekker
Haemostatic and metabolic abnormalities in women with unexplained recurrent abortion.
Human reproduction (Oxford, England) 1999;14(1):211-4.
1999: André B P van Kuilenburg; Peter Vreken; N G G M Abeling; Henk D Bakker; Rutger Meinsma; Henk Van Lenthe; Ronney A De Abreu; Jan A M Smeitink; Hulya Kayserili; Memnune Y Apak; E Christensen; Irma E Holopainen; Kari Pulkki; D Riva; G Botteon; Elisabeth Holme; Már Tulinius; Wim J Kleijer; Frits A Beemer; Marinus Duran; Klary E Niezen-Koning; G Peter A Smit; Cornelis Jakobs; L M Smit; Albert H van Gennip
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Human genetics 1999;104(1):1-9.
1999: Coen D A Stehouwer; Mari-Anne Gall; Philip Hougaard; Cornelis Jakobs; Hans-Henrik Parving
Plasma homocysteine concentration predicts mortality in non-insulin-dependent diabetic patients with and without albuminuria.
Kidney international 1999;55(1):308-14.
1998: Eduard A Struys; Erwin E W Jansen; Herman J Ten Brink; Nanda M Verhoeven; M S van der Knaap; Cornelis Jakobs
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.
Journal of pharmaceutical and biomedical analysis 1998;18(4-5):659-65.
1998: Coen D A Stehouwer; M P Weijenberg; M van den Berg; Cornelis Jakobs; Edith J M Feskens; D Kromhout
Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-up.
Arteriosclerosis, thrombosis, and vascular biology 1998;18(12):1895-901.
1998: Velja Mijatovic; JAN COEN NETELENBOS; Marius J van der Mooren; Gerdien W de Valk-de Roo; Cornelis Jakobs; Peter Kenemans
Randomized, double-blind, placebo-controlled study of the effects of raloxifene and conjugated equine estrogen on plasma homocysteine levels in healthy postmenopausal women.
Fertility and sterility 1998;70(6):1085-9.
1998: Nanda M Verhoeven; Cornelis Jakobs; Herman J Ten Brink; RJ Wanders; Charles R Roe
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
Journal of inherited metabolic disease 1998;21(7):753-60.
1998: Nanda M Verhoeven; RJ Wanders; B T Poll-The; J M Saudubray; Cornelis Jakobs
The metabolism of phytanic acid and pristanic acid in man: a review.
Journal of inherited metabolic disease 1998;21(7):697-728.
1998: Charles R Roe; E Struys; R M Kok; Diane S Roe; R A Harris; Cornelis Jakobs
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
Molecular genetics and metabolism 1998;65(1):35-43.
1998: KL Chambliss; DD Hinson; F Trettel; Patrizia Malaspina; Andrea Novelletto; Cornelis Jakobs; K Michael Gibson
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
American journal of human genetics 1998;63(2):399-408.
1998: Terttu Suormala; Brian Fowler; Cornelis Jakobs; M Duran; Willy Lehnert; K Raab; H Wick; E Regula Baumgartner
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
European journal of pediatrics 1998;157(7):570-5.
1998: EK Hoogeveen; Piet J Kostense; Agnes Jager; Robert J Heine; Cornelis Jakobs; Lex M Bouter; A J M Donker; Coen D A Stehouwer
Serum homocysteine level and protein intake are related to risk of microalbuminuria: the Hoorn Study.
Kidney international 1998;54(1):203-9.
1998: Coen Van Guldener; A J M Donker; Cornelis Jakobs; Tom Teerlink; Kees de Meer; Coen D A Stehouwer
No net renal extraction of homocysteine in fasting humans.
Kidney international 1998;54(1):166-9.
1998: Nanda M Verhoeven; Cornelis Jakobs; Gael Carney; M P Somers; RJ Wanders; William B Rizzo
Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid.
FEBS letters 1998;429(3):225-8.
1998: Willem Kulik; J A Meesterburrie; Cornelis Jakobs; Kees de Meer
Determination of delta13C values of valine in protein hydrolysate by gas chromatography-combustion isotope ratio mass spectrometry.
Journal of chromatography. B, Biomedical sciences and applications 1998;710(1-2):37-47.
1998: CG Costa; L Dorland; Isabel Tavares de Almeida; Cornelis Jakobs; Marinus Duran; B T Poll-The
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1998;21(4):391-9.
1998: Gerbert Jansen; Sacha Ferdinandusse; OH Skjeldal; OH Stokke; C J de Groot; Cornelis Jakobs; Ronald J A Wanders
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Journal of inherited metabolic disease 1998;21(3):288-91.
1998: K Michael Gibson; Lawrence Sweetman; V Kozich; A Pijackova; A Tscharre; A Cortez; François Eyskens; Cornelis Jakobs; M Duran; Bwee Tien Poll-The
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Journal of inherited metabolic disease 1998;21(3):255-61.
1998: Peter G Barth; Ronald J A Wanders; Hans R Scholte; N G G M Abeling; Cornelis Jakobs; R B Schutgens; Peter Vreken
L-2-hydroxyglutaric aciduria and lactic acidosis.
Journal of inherited metabolic disease 1998;21(3):251-4.
1998: Fátima V Ventura; Lodewijk IJlst; Jos P N Ruiter; Rob Ofman; CG Costa; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; L L Bieber; Ronald J A Wanders
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria.
European journal of biochemistry / FEBS 1998;253(3):614-8.
1998: Velja Mijatovic; Peter Kenemans; JAN COEN NETELENBOS; Cornelis Jakobs; Corry Popp-Snijders; ER Peters-Muller; Marius J van der Mooren
Postmenopausal oral 17beta-estradiol continuously combined with dydrogesterone reduces fasting serum homocysteine levels.
Fertility and sterility 1998;69(5):876-82.
1998: Nanda M Verhoeven; D S M Schor; Charles R Roe; RJ Wanders; Cornelis Jakobs
Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts.
Biochimica et biophysica acta 1998;1391(3):351-6.
1998: C D Stehouwer; Cornelis Jakobs
Abnormalities of vascular function in hyperhomocysteinaemia: relationship to atherothrombotic disease.
European journal of pediatrics 1998;157 Suppl 2():S107-11.
1998: Brian Fowler; Cornelis Jakobs
Post- and prenatal diagnostic methods for the homocystinurias.
European journal of pediatrics 1998;157 Suppl 2():S88-93.
1998: Gerbert Jansen; Stephanie J Mihalik; Paul A Watkins; Cornelis Jakobs; Hugo W Moser; Ronald J A Wanders
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders.
Clinica chimica acta; international journal of clinical chemistry 1998;271(2):203-11.
1998: CG Costa; L Dorland; U Holwerda; Isabel Tavares de Almeida; B T Poll-The; Cornelis Jakobs; Marinus Duran
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
Clinical chemistry 1998;44(3):463-71.
1998: Velja Mijatovic; Peter Kenemans; Cornelis Jakobs; W Marchien van Baal; ER Peters-Muller; Marius J van der Mooren
A randomized controlled study of the effects of 17beta-estradiol-dydrogesterone on plasma homocysteine in postmenopausal women.
Obstetrics and gynecology 1998;91(3):432-6.
1998: Coen Van Guldener; MJ Janssen; Coen D A Stehouwer; Cornelis Jakobs; Jean G F Bronzwaer; J Surachno; A J M Donker
The effect of renal transplantation on hyperhomocysteinaemia in dialysis patients, and the estimation of renal homocysteine extraction in patients with normal renal function.
The Netherlands journal of medicine 1998;52(2):58-64.
1998: K Michael Gibson; Georg F Hoffmann; A K Hodson; Teodoro Bottiglieri; Cornelis Jakobs
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
Neuropediatrics 1998;29(1):14-22.
1998: B Buyukgebiz; Cornelis Jakobs; Hans R Scholte; Jan G M Huijmans; Wim J Kleijer
Fatal neonatal malonic aciduria.
Journal of inherited metabolic disease 1998;21(1):76-7.
1998: Coen Van Guldener; MJ Janssen; J Lambert; Piet M ter Wee; Cornelis Jakobs; A J M Donker; Coen D A Stehouwer
No change in impaired endothelial function after long-term folic acid therapy of hyperhomocysteinaemia in haemodialysis patients.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1998;13(1):106-12.
1998: Nanda M Verhoeven; Diane S Roe; R M Kok; RJ Wanders; Cornelis Jakobs; Charles R Roe
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.
Journal of lipid research 1998;39(1):66-74.
1998: EK Hoogeveen; Piet J Kostense; P J Beks; Albert J C Mackaay; Cornelis Jakobs; Lex M Bouter; Robert J Heine; Coen D A Stehouwer
Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study.
Arteriosclerosis, thrombosis, and vascular biology 1998;18(1):133-8.
1997: EK Hoogeveen; Piet J Kostense; Cornelis Jakobs; Lex M Bouter; Robert J Heine; Coen D A Stehouwer
Does metformin increase the serum total homocysteine level in non-insulin-dependent diabetes mellitus?
Journal of internal medicine 1997;242(5):389-94.
1997: Nanda M Verhoeven; D S M Schor; Charles R Roe; RJ Wanders; Cornelis Jakobs
Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts.
Biochimica et biophysica acta 1997;1361(3):281-6.
1997: Nanda M Verhoeven; RJ Wanders; D S M Schor; Gerbert Jansen; Cornelis Jakobs
Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver.
Journal of lipid research 1997;38(10):2062-70.
1997: Gerbert Jansen; Rob Ofman; Sacha Ferdinandusse; Lodewijk IJlst; Anton O Muijsers; OH Skjeldal; OH Stokke; Cornelis Jakobs; G T N Besley; James Wraith; Ronald J A Wanders
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics 1997;17(2):190-3.
1997: Ronald J A Wanders; L Vilarinho; H P Hartung; Georg F Hoffmann; P A Mooijer; Gerbert Jansen; Jan G M Huijmans; J B C de Klerk; Herman J Ten Brink; Cornelis Jakobs; Marinus Duran
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.
Journal of inherited metabolic disease 1997;20(5):725-6.
1997: Nanda M Verhoeven; D S M Schor; Herman J Ten Brink; RJ Wanders; Cornelis Jakobs
Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA.
Biochemical and biophysical research communications 1997;237(1):33-6.
1997: Nanda M Verhoeven; D S M Schor; Stephen Previs; Henri Brunengraber; Cornelis Jakobs
Stable isotope studies of phytanic acid alpha-oxidation: in vivo production of formic acid.
European journal of pediatrics 1997;156 Suppl 1():S83-7.
1997: Cornelis Jakobs; J Kneer; D Martin; J Boulloche; M Brivet; B T Poll-The; J M Saudubray
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
European journal of pediatrics 1997;156 Suppl 1():S78-82.
1997: Gerbert Jansen; Stephanie J Mihalik; Paul A Watkins; Hugo W Moser; Cornelis Jakobs; Hugo S A Heijmans; Ronald J A Wanders
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic disease 1997;20(3):444-6.
1997: Nanda M Verhoeven; D S M Schor; Gerbert Jansen; R M Kok; Herman J Ten Brink; RJ Wanders; Cornelis Jakobs
Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver.
Journal of inherited metabolic disease 1997;20(3):441-3.
1997: Fátima V Ventura; CG Costa; Lodewijk IJlst; L Dorland; Marinus Duran; Cornelis Jakobs; Isabel Tavares de Almeida; Ronald J A Wanders
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
Journal of inherited metabolic disease 1997;20(3):423-6.
1997: Margarida F B Silva; Jos P N Ruiter; L Illst; Cornelis Jakobs; Marinus Duran; Isabel Tavares de Almeida; Ronald J A Wanders
Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro.
Journal of inherited metabolic disease 1997;20(3):397-400.
1997: K Michael Gibson; E Christensen; Cornelis Jakobs; Brian Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; Dietrich Matern; O F Brouwer; JANICE FINKELSTEIN; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; Daniel Rabier; C Santos; Willy Lehnert
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Pediatrics 1997;99(4):567-74.
1997: CG Costa; Eduard A Struys; Albert H Bootsma; Herman J Ten Brink; L Dorland; Isabel Tavares de Almeida; Marinus Duran; Cornelis Jakobs
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
Journal of lipid research 1997;38(1):173-82.