Nanda M Verhoeven-Duif

Nanda M Verhoeven-Duif

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Nanda M Verhoeven-Duif

Nanda M Verhoeven-Duif

Publications by authors named "Nanda M Verhoeven-Duif"

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Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Biochim Biophys Acta Gen Subj 2020 Mar 14;1864(3):129484. Epub 2019 Nov 14.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.129484DOI Listing
March 2020

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Biochim Biophys Acta Mol Basis Dis 2020 Mar 21;1866(3):165607. Epub 2019 Nov 21.

Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2019.165607DOI Listing
March 2020

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Mol Genet Metab Rep 2020 Mar 27;22:100551. Epub 2019 Dec 27.

Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938934PMC
March 2020

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

Int J Mol Sci 2020 Feb 1;21(3). Epub 2020 Feb 1.

Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/ijms21030979DOI Listing
February 2020

Inborn errors of enzymes in glutamate metabolism.

J Inherit Metab Dis 2019 Oct 11. Epub 2019 Oct 11.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12180DOI Listing
October 2019

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics.

Metabolites 2019 Oct 18;9(10). Epub 2019 Oct 18.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/metabo9100236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835587PMC
October 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.

J Inherit Metab Dis 2019 Sep 9;42(5):745-761. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12128DOI Listing
September 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

J Inherit Metab Dis 2019 Sep 7;42(5):730-744. Epub 2019 Aug 7.

Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12129
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http://dx.doi.org/10.1002/jimd.12129DOI Listing
September 2019

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Mol Genet Metab 2019 08 9;127(4):368-372. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.001DOI Listing
August 2019

Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism.

Biochim Biophys Acta Gen Subj 2019 06 27;1863(6):1088-1097. Epub 2019 Mar 27.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.03.019DOI Listing
June 2019

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.

Mol Genet Metab 2019 05 15;127(1):51-57. Epub 2019 Mar 15.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.03.005DOI Listing
May 2019

Focal epilepsy with fear-related behavior as primary presentation in Boerboel dogs.

J Vet Intern Med 2019 Mar 22;33(2):694-700. Epub 2018 Dec 22.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1111/jvim.15346
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http://dx.doi.org/10.1111/jvim.15346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430876PMC
March 2019

Improved cognition, mild anxiety-like behavior and decreased motor performance in pyridoxal phosphatase-deficient mice.

Biochim Biophys Acta Mol Basis Dis 2019 01 16;1865(1):193-205. Epub 2018 Aug 16.

Institute of Pharmacology and Toxicology, University of Würzburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09254439183030
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http://dx.doi.org/10.1016/j.bbadis.2018.08.018DOI Listing
January 2019

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Metabolites 2019 Jan 11;9(1). Epub 2019 Jan 11.

Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/metabo9010012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359237PMC
January 2019

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

Genes (Basel) 2018 Dec 22;10(1). Epub 2018 Dec 22.

Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles (UCLA), Los Angeles, CA 90095, USA.

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http://www.mdpi.com/2073-4425/10/1/8
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http://dx.doi.org/10.3390/genes10010008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357176PMC
December 2018

Phase I study of combined indomethacin and platinum-based chemotherapy to reduce platinum-induced fatty acids.

Cancer Chemother Pharmacol 2018 05 24;81(5):911-921. Epub 2018 Mar 24.

Division of Molecular Oncology and Immunology, Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00280-018-3563-2DOI Listing
May 2018

Vitamin B6 is essential for serine de novo biosynthesis.

J Inherit Metab Dis 2017 11 11;40(6):883-891. Epub 2017 Aug 11.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, KC02.069.1, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1007/s10545-017-0061-3
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http://dx.doi.org/10.1007/s10545-017-0061-3DOI Listing
November 2017

Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry.

Anal Chim Acta 2017 Aug 26;979:45-50. Epub 2017 Apr 26.

Department of Genetics and Center for Molecular Medicine, UMC Utrecht, Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00032670173051
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http://dx.doi.org/10.1016/j.aca.2017.04.038DOI Listing
August 2017

Development of psychopathology in deployed armed forces in relation to plasma GABA levels.

Psychoneuroendocrinology 2016 11 17;73:263-270. Epub 2016 Aug 17.

Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht (UMCU), Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.psyneuen.2016.08.014DOI Listing
November 2016

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

CSF d-serine concentrations are similar in Alzheimer's disease, other dementias, and elderly controls.

Neurobiol Aging 2016 06 23;42:213-6. Epub 2016 Mar 23.

Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Departments of Neurology and Laboratory Medicine, Radboud Alzheimer Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.017DOI Listing
June 2016

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

JIMD Rep 2016 27;30:15-22. Epub 2016 Feb 27.

Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110436PMC
February 2016

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

JAMA Oncol 2015 Jun;1(3):350-8

Department of Medical Oncology, University Medical Center Utrecht, the Netherlands2Department of Molecular Oncology, the Netherlands Cancer Institute, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1001/jamaoncol.2015.0388DOI Listing
June 2015

Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.

Anal Chim Acta 2015 Jan 31;853:435-441. Epub 2014 Oct 31.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2014.10.043DOI Listing
January 2015

Monocarboxylate transporter 1 deficiency and ketone utilization.

N Engl J Med 2014 Nov;371(20):1900-7

From the Division of Pediatrics, Department of Metabolic Diseases (P.M.H., G.V.), and the Division of Pediatrics, Department of Pediatric Gastroenterology (R.H.J.H.), Wilhelmina Children's Hospital, and the Center for Molecular Medicine, Department of Medical Genetics (G.R.M., M.J.G., K.D., M.H., B.Z., J.J.S., N.M.V.-D., G.H.), University Medical Center Utrecht, Utrecht, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, Amsterdam (S.F., J.P.N.R., M.T., R.J.A.W.), the Division of Pediatrics, Department of Metabolic Diseases, and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht (M.E.R.-G.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen (M.C.V.) - all in the Netherlands; the National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland (A.A.M.); the Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey (I.O.); and the Department of Paediatric Metabolic Medicine, Sheffield Children's Hospital, Sheffield (M.J.S.), the Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London (M.C.), Chemical Pathology, Department of Laboratory Medicine, Salisbury (N.O.), and the Department of Clinical Biochemistry, Southampton General Hospital, Southampton (V.W.) - all in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1407778DOI Listing
November 2014

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.

Am J Clin Nutr 2014 Aug 7;100(2):587-92. Epub 2014 May 7.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).

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http://dx.doi.org/10.3945/ajcn.113.082008DOI Listing
August 2014

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

J Inherit Metab Dis 2014 Jul 8;37(4):497-504. Epub 2014 Feb 8.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9681-zDOI Listing
July 2014

Expanding the clinical phenotype of COG6 deficiency.

J Med Genet 2014 Jun 25;51(6):425. Epub 2014 Mar 25.

Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102329DOI Listing
June 2014

Differences between acylcarnitine profiles in plasma and bloodspots.

Mol Genet Metab 2013 Sep-Oct;110(1-2):116-21. Epub 2013 Apr 13.

Department of Medical Genetics, UMC Utrecht, The Netherlands Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.008DOI Listing
March 2014

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.

JAMA Neurol 2014 Feb;71(2):188-94

Department of Pediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2013.4915DOI Listing
February 2014

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

J Inherit Metab Dis 2013 Nov 14;36(6):961-6. Epub 2012 Dec 14.

Laboratory of Physiological Chemistry, de Duve Institute and Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium,

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http://dx.doi.org/10.1007/s10545-012-9568-9DOI Listing
November 2013

D-amino acid aberrations in cerebrospinal fluid and plasma of smokers.

Neuropsychopharmacology 2013 Sep 24;38(10):2019-26. Epub 2013 Apr 24.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht (UMCU), Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/npp.2013.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746686PMC
September 2013

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

Clin Biochem 2013 Sep 29;46(13-14):1272-5. Epub 2013 May 29.

Section Metabolic Diagnostics, Department of Medical Genetics, University Medical Center Utrecht, KC.02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.clinbiochem.2013.05.054DOI Listing
September 2013

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

Mol Genet Metab 2013 Jun 21;109(2):121-4. Epub 2013 Mar 21.

Department of Metabolic Disease, Wilhelmina Children's Hospital Utrecht, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.006DOI Listing
June 2013

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

J Chromatogr B Analyt Technol Biomed Life Sci 2013 Apr 24;925:16-9. Epub 2013 Jan 24.

University Medical Centre Utrecht, Department of Metabolic Diseases and Netherlands Metabolomics Centre, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15700232130005
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http://dx.doi.org/10.1016/j.jchromb.2013.01.012DOI Listing
April 2013

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

JIMD Rep 2012 24;6:95-9. Epub 2012 Feb 24.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, 85090, 3508, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/8904_2011_122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565682PMC
February 2013

Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.

Pediatrics 2012 Jul 25;130(1):e191-8. Epub 2012 Jun 25.

Department of Metabolic Diseases and Netherlands Metabolomics Center, University Medical Center Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1542/peds.2011-3751DOI Listing
July 2012

Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes.

J Biol Chem 2012 Jun 23;287(26):21654-62. Epub 2012 Apr 23.

Department of Metabolic Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital Utrecht, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M112.363218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381129PMC
June 2012

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.

J Chromatogr A 2011 Oct 3;1218(40):7130-6. Epub 2011 Aug 3.

University Medical Center Utrecht/Wilhelmina Children's Hospital, Department of Metabolic and Endocrine Diseases, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.chroma.2011.07.087DOI Listing
October 2011

Fatal cerebral edema associated with serine deficiency in CSF.

J Inherit Metab Dis 2010 Dec 19;33 Suppl 3:S181-5. Epub 2010 Mar 19.

Laboratory for Biochemical Genetics, Dept Clinical Genetics, Maastricht University Medical Center, P Debyelaan 25, 6229 HX Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9067-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757259PMC
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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http://dx.doi.org/10.1016/j.bbadis.2010.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117462PMC
November 2010