Publications by authors named "Cornelis Jakobs"

100Publications

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Brain 2018 06;141(6):e49

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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June 2018

Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.

Toxicol In Vitro 2017 Aug 7;42:47-53. Epub 2017 Apr 7.

Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 2752, CEP 90610-000 Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, R. Ramiro Barcelos, 2600, CEP 90035-003 Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R. Ramiro Barcelos, 2350, CEP 90035-003 Porto Alegre, RS, Brazil. Electronic address:

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August 2017

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Neurology 2015 Sep 12;85(10):861-5. Epub 2015 Aug 12.

From the Division of Neurology, Department of Medicine (S.L.-R., C.D.M., A.G.) and Department of Radiology (C.T.), The Ottawa Hospital, University of Ottawa, Ontario, Canada; Division of Neurology (E.C.L.) and Department of Pediatrics (P.C.), Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada; Division of Experimental and Systems Pharmacology (K.M.G.), Washington State University College of Pharmacy, Spokane, WA; Department of Clinical Chemistry (G.S.S., C.J.), Metabolic Unit, Polikliniek rec. K (PK 1X 009), VU University Medical Center, Amsterdam, the Netherlands; University of Ottawa Eye Institute (A.A.-R.), Ottawa, Ontario, Canada; and Department of Epilepsy & Clinical Neurophysiology (M.P., P.L.P.), Harvard Medical School, Boston Children's Hospital, Boston, MA. Dr. Lapalme-Remis is currently with the Mayo Clinic, Rochester, MN. Dr. Lewis is currently with The Hospital for Sick Children, Toronto, Ontario, Canada. Dr. Ali-Ridha is currently with McGill University, Montreal, Quebec, Canada.

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September 2015

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Biochim Biophys Acta 2014 Jun 20;1840(6):2070-9. Epub 2014 Feb 20.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands; Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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June 2014

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Epileptic Disord 2013 Dec;15(4):400-6

Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.

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December 2013

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Gene 2014 Jan 18;533(2):488-93. Epub 2013 Oct 18.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands; Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands.

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January 2014

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

J Inherit Metab Dis 2013 Nov 12;36(6):997-1004. Epub 2013 Jan 12.

Department of Pediatrics, Genetics division, King AbdulAziz Medical City, Riyadh, Saudi Arabia,

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November 2013

Long-term outcome in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2012 Sep 13;54(9):849-54. Epub 2012 Jul 13.

Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

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September 2012

Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

J Inherit Metab Dis 2013 May 28;36(3):401-10. Epub 2012 Jun 28.

Section of Clinical Pharmacology, College of Pharmacy, Washington State University, Spokane, WA 99202-2131, USA.

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May 2013

Nephrological abnormalities in patients with transaldolase deficiency.

Nephrol Dial Transplant 2012 Aug 17;27(8):3224-7. Epub 2012 Apr 17.

Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.

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August 2012

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.

Atherosclerosis 2012 Jun 24;222(2):509-11. Epub 2012 Mar 24.

Department of Clinical Chemistry, Metabolic Unit, Institute for Cardiovascular Research (ICAR-VU), VU University Medical Center, Amsterdam, The Netherlands.

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June 2012

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

J Inherit Metab Dis 2012 Nov 9;35(6):1031-6. Epub 2012 Mar 9.

Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK.

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November 2012

Progress in understanding 2-hydroxyglutaric acidurias.

J Inherit Metab Dis 2012 Jul 6;35(4):571-87. Epub 2012 Mar 6.

Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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July 2012

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Mol Genet Metab 2012 Apr 6;105(4):596-601. Epub 2012 Jan 6.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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April 2012

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

J Inherit Metab Dis 2012 Sep 17;35(5):909-16. Epub 2012 Jan 17.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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September 2012

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

Dev Med Child Neurol 2011 Dec 27;53(12):1150-3. Epub 2011 Jun 27.

Clinic for Paediatric Kidney, Liver, and Metabolic Disorders, Hannover Medical School, Hannover, Germany.

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December 2011

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

Brain Dev 2011 Oct 12;33(9):796-805. Epub 2011 Jun 12.

Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.

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October 2011

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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January 2012

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Am J Med Genet B Neuropsychiatr Genet 2011 Jun 22;156B(4):448-53. Epub 2011 Mar 22.

Department of Pathology, Haartman Institute, University of Helsinki, Finland.

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June 2011

Roth spots in pyridoxine dependent epilepsy.

BMJ Case Rep 2011 Aug 17;2011. Epub 2011 Aug 17.

Department of Pediatrics, Maxima Medisch Centrum Veldhoven, Veldhoven, Brabant, Netherlands.

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August 2011

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

J Pediatr Gastroenterol Nutr 2011 Jan;52(1):113-6

Department of Genetics, Pediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

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January 2011

What have we here? A man or a fish?

Lancet 2010 Nov;376(9753):1710

Department of Internal Medicine, VU University Medical Centre, Amsterdam, The Netherlands.

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November 2010

Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods.

Clin Chem Lab Med 2010 Dec 28;48(12):1793-8. Epub 2010 Oct 28.

Metabolism and Genetics Group (Met&Gen Group), Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Portugal.

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December 2010

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Antioxid Redox Signal 2011 Aug 10;15(3):691-718. Epub 2011 Apr 10.

Pohang Accelerator Laboratory, Pohang University of Science and Technology, Pohang, Republic of Korea.

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August 2011

SSIEM reflections 2004-2010: the growing stature of our society.

Authors:
Cornelis Jakobs

J Inherit Metab Dis 2010 Dec;33(6):641-4

Head Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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December 2010

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mol Genet Metab 2010 Dec 26;101(4):409-12. Epub 2010 Aug 26.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, UBC, Canada.

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December 2010

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

Biochim Biophys Acta 2010 Nov 18;1802(11):1028-35. Epub 2010 Jun 18.

Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.

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November 2010

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

Metabolism 2010 Dec 23;59(12):1723-9. Epub 2010 May 23.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, PO Box 7057, 1007MB Amsterdam, The Netherlands.

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December 2010

The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.

J Mol Med (Berl) 2010 Sep 25;88(9):931-9. Epub 2010 May 25.

Department of Clinical Chemistry, VU University Medical Center Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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September 2010

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Pediatr Neurol 2010 Apr;42(4):255-8

Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.

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April 2010

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

J Inherit Metab Dis 2010 Feb 6;33(1):85-90. Epub 2010 Jan 6.

Clinical Research Institute, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Japan.

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February 2010

Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation.

FEBS Lett 2010 Jan;584(1):181-6

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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January 2010

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Eur J Pediatr 2010 Mar 9;169(3):297-303. Epub 2009 Jul 9.

Department of Paediatrics, Máxima Medical Centre, P.O. Box 7777, 5500 MB, Veldhoven, The Netherlands.

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March 2010

Transaldolase deficiency in two new patients with a relative mild phenotype.

Mol Genet Metab 2009 May 10;97(1):15-7. Epub 2009 Feb 10.

Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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May 2009

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Mol Genet Metab 2009 Apr 1;96(4):273-5. Epub 2009 Feb 1.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.

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April 2009

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.

BMC Dev Biol 2008 Nov 28;8:112. Epub 2008 Nov 28.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital & the University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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November 2008

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

Eur J Pediatr 2009 Aug 13;168(8):957-62. Epub 2008 Nov 13.

Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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August 2009

A catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth.

Proc Natl Acad Sci U S A 2008 Nov 11;105(46):17807-11. Epub 2008 Nov 11.

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.

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November 2008

Opening editorial 'The Garrod Day'.

Authors:
Cornelis Jakobs

J Inherit Metab Dis 2008 Oct;31(5):557

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October 2008

The Komrower Memorial Lecture 2008.

Authors:
Cornelis Jakobs

J Inherit Metab Dis 2008 Oct;31(5):641-2

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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October 2008

Circulating oxidized LDL: determinants and association with brachial flow-mediated dilation.

J Lipid Res 2009 Feb 18;50(2):342-9. Epub 2008 Sep 18.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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February 2009

Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

CNS Spectr 2008 Jul;13(7):598-605

Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.

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July 2008

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.

Gene 2008 Jul 15;418(1-2):53-9. Epub 2008 Apr 15.

VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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July 2008

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Mol Genet Metab 2008 Jun 10;94(2):255-8. Epub 2008 Mar 10.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands.

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June 2008

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

Plant J 2008 Jan 29;53(2):197-213. Epub 2007 Oct 29.

Department of Plant Physiology, Swammerdam Institute for Life Sciences, University of Amsterdam, Kruislaan 318, 1098 SM Amsterdam, The Netherlands.

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January 2008

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Ann Neurol 2007 Oct;62(4):414-8

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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October 2007