Publications by authors named "Eduard Struys"

100Publications

Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver.

Nutr Neurosci 2020 Nov 25:1-12. Epub 2020 Nov 25.

Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1080/1028415X.2020.1846356DOI Listing
November 2020

No evidence for cell-to-cell transmission of the unfolded protein response in cell culture.

J Neurochem 2020 01 21;152(2):208-220. Epub 2019 Oct 21.

Department of Clinical Genetics, Amsterdam University Medical Centers Location VUmc, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/jnc.14856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003778PMC
January 2020

Pre-analytical stability of novel cerebrospinal fluid biomarkers.

Clin Chim Acta 2019 Oct 23;497:204-211. Epub 2019 Jul 23.

Neurochemistry laboratory, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, the Netherlands; Head of Biobank, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, the Netherlands.

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http://dx.doi.org/10.1016/j.cca.2019.07.024DOI Listing
October 2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Hum Mutat 2019 07 13;40(7):975-982. Epub 2019 Apr 13.

Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619364PMC
July 2019

Fecal Amino Acid Analysis Can Discriminate De Novo Treatment-Naïve Pediatric Inflammatory Bowel Disease From Controls.

J Pediatr Gastroenterol Nutr 2018 05;66(5):773-778

Department Pediatric Gastroenterology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000001812DOI Listing
May 2018

Blood-based metabolic signatures in Alzheimer's disease.

Alzheimers Dement (Amst) 2017 6;8:196-207. Epub 2017 Sep 6.

Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.dadm.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607205PMC
September 2017

Measurement of Oncometabolites D-2-Hydroxyglutaric Acid and L-2-Hydroxyglutaric Acid.

Methods Mol Biol 2017 ;1633:219-234

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1007/978-1-4939-7142-8_14DOI Listing
May 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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http://dx.doi.org/10.1016/j.tiv.2017.04.006DOI Listing
August 2017

Cyst Fluid From Cystic, Malignant Brain Tumors: A Reservoir of Nutrients, Including Growth Factor-Like Nutrients, for Tumor Cells.

Neurosurgery 2017 Jun;80(6):917-924

Department of Complex Neurology and Neurohabilitation, Oslo University Hospital and University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1093/neuros/nyw101DOI Listing
June 2017

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

JIMD Rep 2017 21;37:13-17. Epub 2017 Feb 21.

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

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http://dx.doi.org/10.1007/8904_2017_4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740046PMC
February 2017

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Metab Brain Dis 2017 04 23;32(2):443-451. Epub 2016 Nov 23.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s11011-016-9933-8DOI Listing
April 2017

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9955-8DOI Listing
September 2016

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.

Pediatr Neurol 2016 07 13;60:60-5. Epub 2016 Apr 13.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.008DOI Listing
July 2016

Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.

J Inherit Metab Dis 2015 Mar 12;38(2):265-72. Epub 2014 Sep 12.

Division of Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-014-9762-zDOI Listing
March 2015

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.

Eur J Paediatr Neurol 2014 Nov 27;18(6):741-6. Epub 2014 Jul 27.

Department of Psychology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.ejpn.2014.07.001DOI Listing
November 2014

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

J Inherit Metab Dis 2014 Sep 1;37(5):775-81. Epub 2014 Apr 1.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany,

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http://link.springer.com/10.1007/s10545-014-9702-y
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http://dx.doi.org/10.1007/s10545-014-9702-yDOI Listing
September 2014

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by genetic defect.

Mol Genet Metab Rep 2014 1;1:124-128. Epub 2014 Apr 1.

Biochemical Genetics Laboratory, Department of Laboratory Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121319PMC
April 2014

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology 2014 Apr 21;82(16):1425-33. Epub 2014 Mar 21.

From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001193PMC
April 2014

Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.

J Inherit Metab Dis 2014 May 16;37(3):327-32. Epub 2014 Jan 16.

Metabolic Unit, Clinical Chemistry, VUmc Medical Center, The Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-013-9673-4DOI Listing
May 2014

2-Hydroxyglutarate is not a metabolite; D-2-hydroxyglutarate and L-2-hydroxyglutarate are!

Authors:
Eduard A Struys

Proc Natl Acad Sci U S A 2013 Dec 6;110(51):E4939. Epub 2013 Dec 6.

Metabolic Laboratory, Clinical Chemistry, Vrije Universiteit Medical Center, Amsterdam 1081HV, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1318777110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870664PMC
December 2013

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Dev Med Child Neurol 2014 May 23;56(5):498-502. Epub 2013 Nov 23.

Department of Neurology, The Royal Children's Hospital, Melbourne, Vic, Australia.

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http://dx.doi.org/10.1111/dmcn.12346DOI Listing
May 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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http://link.springer.com/content/pdf/10.1684/epd.2013.0610.p
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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2013.0610DOI Listing
December 2013

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Pediatrics 2012 Dec 12;130(6):e1716-9. Epub 2012 Nov 12.

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

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http://dx.doi.org/10.1542/peds.2012-1094DOI Listing
December 2012

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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http://dx.doi.org/10.1111/j.1469-8749.2012.04347.xDOI Listing
September 2012

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Mol Genet Metab 2012 Aug 22;106(4):478-81. Epub 2012 Jun 22.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.008DOI Listing
August 2012

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Can J Neurol Sci 2012 Jul;39(4):516-9

Department of Paediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1017/s0317167100014050DOI Listing
July 2012

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Pediatrics 2012 May 23;129(5):e1368-72. Epub 2012 Apr 23.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1542/peds.2011-0123DOI Listing
May 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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http://dx.doi.org/10.1007/s10545-012-9466-1DOI Listing
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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http://dx.doi.org/10.1007/s10545-012-9462-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388262PMC
July 2012

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Mol Genet Metab 2012 Apr 20;105(4):684-6. Epub 2012 Jan 20.

INSERM, U910, Aix-Marseille Université, Marseille, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.011DOI Listing
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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http://dx.doi.org/10.1007/s10545-011-9443-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432202PMC
September 2012

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats.

Mol Genet Metab 2011 Jun 26;103(2):179-84. Epub 2011 Feb 26.

Department of Pediatrics, University of British Columbia, British Columbia Children's Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100058
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http://dx.doi.org/10.1016/j.ymgme.2011.02.015DOI Listing
June 2011

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Am J Med Genet A 2011 Apr 15;155A(4):840-4. Epub 2011 Mar 15.

Department of Paediatrics, Children's and Women's Health Centre, Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33881
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http://dx.doi.org/10.1002/ajmg.a.33881DOI Listing
April 2011

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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http://dx.doi.org/10.1016/j.febslet.2009.11.055DOI Listing
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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http://dx.doi.org/10.1007/s00431-009-1020-2DOI Listing
March 2010

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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http://dx.doi.org/10.1016/j.ymgme.2008.12.020DOI Listing
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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http://dx.doi.org/10.1186/1471-213X-8-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642797PMC
November 2008

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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http://dx.doi.org/10.1073/pnas.0803090105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584745PMC
November 2008

Methionine metabolism in an animal model of sepsis.

Clin Chem Lab Med 2008 ;46(10):1398-402

Neurology Department, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1515/CCLM.2008.277DOI Listing
December 2008

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

Epilepsia 2009 Apr;50(4):933-6

Department of Neurological Sciences, Epilepsy Center, Federico II University, Napoli, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01741.xDOI Listing
April 2009

Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.

Curr Protoc Hum Genet 2007 Jul;Chapter 17:Unit 17.3

Duke University Medical Center, Research Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/0471142905.hg1703s54DOI Listing
July 2007

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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http://dx.doi.org/10.1016/j.ymgme.2008.01.011DOI Listing
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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http://dx.doi.org/10.1111/j.1365-313X.2007.03323.xDOI Listing
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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http://doi.wiley.com/10.1002/ana.21206
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http://dx.doi.org/10.1002/ana.21206DOI Listing
October 2007

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Arch Dis Child 2007 Aug 6;92(8):687-9. Epub 2006 Nov 6.

Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1136/adc.2006.103192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083882PMC
August 2007

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.

Authors:
Eduard A Struys

J Inherit Metab Dis 2006 Feb;29(1):21-9

VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-006-0317-9DOI Listing
February 2006

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nat Med 2006 Mar 19;12(3):307-9. Epub 2006 Feb 19.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

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http://dx.doi.org/10.1038/nm1366DOI Listing
March 2006

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Mol Genet Metab 2005 Sep-Oct;86(1-2):200-5. Epub 2005 Aug 2.

Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.06.005DOI Listing
January 2006

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

J Chromatogr B Analyt Technol Biomed Life Sci 2005 Aug 23;823(1):18-25. Epub 2005 Jan 23.

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

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http://dx.doi.org/10.1016/j.jchromb.2005.01.001DOI Listing
August 2005

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Ann Neurol 2005 Oct;58(4):626-30

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

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http://dx.doi.org/10.1002/ana.20559DOI Listing
October 2005

Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.

J Mol Med (Berl) 2005 Oct 23;83(10):831-6. Epub 2005 Jun 23.

Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Portugal.

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http://dx.doi.org/10.1007/s00109-005-0679-8DOI Listing
October 2005

Kinetics of homocysteine metabolism after moderate alcohol consumption.

Alcohol Clin Exp Res 2005 May;29(5):739-45

TNO (Netherlands Organization for Applied Scientific Research) Nutrition and Food Research, Department of Physiological Sciences, Zeist, The Netherlands.

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http://dx.doi.org/10.1097/01.alc.0000163507.76773.1aDOI Listing
May 2005

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Am J Hum Genet 2005 Feb 17;76(2):358-60. Epub 2004 Dec 17.

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

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http://dx.doi.org/10.1086/427890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196381PMC
February 2005

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.

Clin Chem 2004 Aug 27;50(8):1391-5. Epub 2004 May 27.

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

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http://dx.doi.org/10.1373/clinchem.2004.033399DOI Listing
August 2004

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Clin Chem 2004 Feb;50(2):441-3

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

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http://dx.doi.org/10.1373/clinchem.2003.022764DOI Listing
February 2004

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

FEBS Lett 2004 Jan;557(1-3):115-20

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

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http://dx.doi.org/10.1016/s0014-5793(03)01459-5DOI Listing
January 2004

Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.

Clin Chem 2003 Aug;49(8):1375-80

Department of Pediatrics, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1373/49.8.1375DOI Listing
August 2003

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease.

Clin Chem 2003 Aug;49(8):1292-6

Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-039 Lisbon, Portugal.

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http://dx.doi.org/10.1373/49.8.1292DOI Listing
August 2003