Tom J de Koning

Tom J de Koning

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Tom J de Koning

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Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.

Mov Disord 2019 Oct 4. Epub 2019 Oct 4.

Department of Neurology, University Groningen, University Medical Center Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.1002/mds.27828DOI Listing
October 2019

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

Mov Disord 2019 03 6;34(3):317-320. Epub 2019 Feb 6.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/mds.27627DOI Listing
March 2019

Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.

Mov Disord 2018 12 28;33(12):1844-1856. Epub 2018 Nov 28.

University of Groningen, Division of Metabolic Diseases, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/mds.27484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587951PMC
December 2018

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.

J Inherit Metab Dis 2018 11 29;41(6):929-936. Epub 2018 Mar 29.

Section of Metabolic Diseases, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0167-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326981PMC
November 2018

Progressive myoclonus ataxia: Time for a new definition?

Mov Disord 2018 08 25;33(8):1281-1286. Epub 2018 Aug 25.

University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/mds.27412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175171PMC
August 2018

Ketogenic Diet in Refractory Childhood Epilepsy: Starting With a Liquid Formulation in an Outpatient Setting.

Child Neurol Open 2018 29;5:2329048X18779497. Epub 2018 May 29.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1177/2329048X18779497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977420PMC
May 2018

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

Pediatr Neurol 2018 04 21;81:57-58. Epub 2017 Dec 21.

Department of Paediatrics, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.12.009DOI Listing
April 2018

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.

J Clin Mov Disord 2018 6;5. Epub 2018 Apr 6.

1Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1186/s40734-018-0070-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887190PMC
April 2018

Expanding the phenotype toward spastic paraparesis: A mutation in the M2 domain.

Neurol Genet 2018 Feb 24;4(1):e214. Epub 2018 Jan 24.

Department of Neurology (A.J.E.W., R.Z., M.A.J.T.), and Department of Genetics (F.V., A.H.v.d.H., T.J.d.K.), University Medical Center Groningen, University of Groningen; Department of Pediatrics (J.M.), Deventer Hospital, The Netherlands; and Parkinson's Disease and Movement Disorders Unit (E.T.), Hospital Clinic of Barcelona, Institut Clínic de Neurociències, Barcelona, Spain.

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http://dx.doi.org/10.1212/NXG.0000000000000214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820596PMC
February 2018

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Neonatology 2016 24;109(4):297-302. Epub 2016 Feb 24.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1159/000443874DOI Listing
November 2017

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Neurosci Biobehav Rev 2017 Apr 28;75:22-39. Epub 2017 Jan 28.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2017.01.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921080PMC
April 2017

Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.

Eur Radiol 2017 Mar 7;27(3):976-984. Epub 2016 Jun 7.

Department of Radiology, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00330-016-4454-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306328PMC
March 2017

Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

Mov Disord 2017 01 8;32(1):162-165. Epub 2016 Nov 8.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/mds.26842DOI Listing
January 2017

GAVIN: Gene-Aware Variant INterpretation for medical sequencing.

Genome Biol 2017 01 16;18(1). Epub 2017 Jan 16.

University of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s13059-016-1141-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240400PMC
January 2017

Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome.

Eur J Paediatr Neurol 2016 Jul 25;20(4):671-3. Epub 2016 Mar 25.

University of Groningen, University Medical Center Groningen, Department of Neurology, Hanzeplein 1, 9700 RB Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.03.004DOI Listing
July 2016

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

N Engl J Med 2016 May 27;374(19):1853-63. Epub 2016 Apr 27.

From INSERM, Centre de Recherche des Cordeliers, Unité 1138, Centre National de la Recherche Scientifique, ERL8228 Université Pierre et Marie Curie and Université Paris-Descartes, Paris (K.L., E.S., S.D.); Institute of Human Genetics (B.B.B., A.W., B.R., J.A., G.Y.), Department of Pathology (H.G.), Cologne Center for Genomics and Center for Molecular Medicine (H.T., J.A., P.N.), Department II of Internal Medicine and Center for Molecular Medicine Cologne (M.P.B., T.B., M.M.R.), and Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases and Systems Biology of Aging Cologne (T.B., M.M.R.) - all at the University of Cologne, Cologne, the Department of Cellular and Integrative Physiology, University Medical Center Hamburg, Hamburg (H.V.), University Children's Hospital, Philipps University Marburg (H.W.S.), and Kuratorium für Heimdialyse, Pediatric Kidney Center (G.K.), Marburg, the Institute of Human Genetics, University Health Services Göttingen, Göttingen (G.Y.), and the Department of General Pediatrics, University Hospital Münster, Münster (K.P.S., M. Konrad) - all in Germany; the Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center (S.-S.Y., S.-H.L.), and Institute of BioMedical Sciences, Academia Sinica (S.-S.Y.) - both in Taipei, Taiwan; the Department of Biomedical Molecular Biology, Inflammation Research Center, VIB/Ghent University, Ghent (D.P., M.J.M.B.), Unité de Recherche en Physiologie Moléculaire, University of Namur, Namur (C.D., O.B.), and the Division of Nephrology, University Children's Hospital Leuven (E.L.) - all in Belgium; the Divisions of Neonatology (K.B.) and Nephrology (M. Kömhoff), Beatrix Children's Hospital, and the Departments of Obstetrics and Gynecology (L.K.D., S.A.S.), Pathology and Medical Biology (A.T.), and Genetics (T.J.K.) - all at University Medical Center Groningen, Groningen, the Netherlands; and University Children's Hospital Graz

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http://dx.doi.org/10.1056/NEJMoa1507629DOI Listing
May 2016

Teaching Video NeuroImages: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C.

Neurology 2016 05;86(19):e202

From the Departments of Neurology (H.E., R.B., J.H.v.d.H., F.L., T.J.d.K., M.A.J.T.) and Genetics (T.J.d.K.), University of Groningen, University Medical Center Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002660DOI Listing
May 2016

Reliability of phenotypic early-onset ataxia assessment: a pilot study.

Dev Med Child Neurol 2016 Jan 21;58(1):70-6. Epub 2015 May 21.

Paediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.12804DOI Listing
January 2016

A novel diagnostic approach to patients with myoclonus.

Nat Rev Neurol 2015 Dec 10;11(12):687-97. Epub 2015 Nov 10.

Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.

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http://dx.doi.org/10.1038/nrneurol.2015.198DOI Listing
December 2015

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.

Eur J Paediatr Neurol 2015 Nov 21;19(6):726-9. Epub 2015 Jul 21.

University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2015.07.003DOI Listing
November 2015

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

J Neurol Neurosurg Psychiatry 2015 Jul 13;86(7):774-81. Epub 2014 Nov 13.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2014-309106DOI Listing
July 2015

Cortical Myoclonus in a Young Boy with Mutation Mimics Chorea.

Mov Disord Clin Pract 2015 Mar 24;2(1):61-63. Epub 2015 Feb 24.

Department of Neurology University Medical Center Groningen University of Groningen Groningen The Netherlands.

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http://dx.doi.org/10.1002/mdc3.12136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353358PMC
March 2015

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping.

Nat Rev Neurol 2015 Feb 6;11(2):78-9. Epub 2015 Jan 6.

University of Groningen, University Medical Center Groningen, Departments of Genetics and Neurology, PO Box 30.001, 9700 RB Groningen, Netherlands.

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http://dx.doi.org/10.1038/nrneurol.2014.254DOI Listing
February 2015

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

Expert Rev Mol Diagn 2015 Jan 4;15(1):61-70. Epub 2014 Nov 4.

University of Groningen, University Medical Center Groningen, Department of Genetics, CB 50, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2015.97
Publisher Site
http://dx.doi.org/10.1586/14737159.2015.976555DOI Listing
January 2015

Assessment of speech in early-onset ataxia: a pilot study.

Dev Med Child Neurol 2014 Dec 18;56(12):1202-1206. Epub 2014 Jun 18.

Department of Paediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.12517DOI Listing
December 2014

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

J Pediatr 2014 Feb 14;164(2):398-401. Epub 2013 Nov 14.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.10.001DOI Listing
February 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

High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.

JIMD Rep 2013 1;7:103-8. Epub 2012 Jul 1.

Department of Pediatric Hematology-Oncology, University Medical Center Utrecht/Wilhelmina Children's Hospital, Room number KC 03.063.0, 85090, 3508 AB, Utrecht, The Netherlands,

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http://link.springer.com/10.1007/8904_2012_156
Publisher Site
http://dx.doi.org/10.1007/8904_2012_156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575055PMC
February 2013

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis.

JIMD Rep 2012 20;4:99-102. Epub 2011 Oct 20.

Department of Neurology, Academic Medical Centre, 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2011_78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509898PMC
February 2013

D-serine influences synaptogenesis in a p19 cell model.

JIMD Rep 2012 1;6:47-53. Epub 2012 Feb 1.

Department of Metabolic and Endocrine Diseases/Department of Biomedical Genetics, University Medical Center Utrecht, 85090, 3508 AB, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/8904_2011_116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565666PMC
February 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

Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.

Amino Acids 2012 Jul 23;43(1):355-63. Epub 2011 Sep 23.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Postbox 85090, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00726-011-1086-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374112PMC
July 2012

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

D-serine: the right or wrong isoform?

Brain Res 2011 Jul 23;1401:104-17. Epub 2011 May 23.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.brainres.2011.05.039DOI Listing
July 2011

Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry.

Intensive Care Med 2011 Jun 11;37(6):1014-20. Epub 2011 Mar 11.

Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Room KC 03.063.0, PO Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00134-011-2175-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098354PMC
June 2011

Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

J Inherit Metab Dis 2011 Jun 17;34(3):657-69. Epub 2011 Mar 17.

Department of Orthopaedics, University Medical Center Utrecht, HP G 05.228, Postbus 85500, 3508 GA Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9304-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109254PMC
June 2011

Metabolic profiles in children during fasting.

Pediatrics 2011 Apr 21;127(4):e1021-7. Epub 2011 Mar 21.

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

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http://dx.doi.org/10.1542/peds.2010-1706DOI Listing
April 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

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.

J Inherit Metab Dis 2010 Dec 24;33 Suppl 3:S283-8. Epub 2010 Jun 24.

Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Huispost KC02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9149-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757265PMC
December 2010

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Hum Mol Genet 2010 Sep 6;19(18):3623-33. Epub 2010 Jul 6.

Center for Child and Adolescent Medicine, Center for Metabolic Diseases Heidelberg, Department I, Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq278DOI Listing
September 2010

Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid.

J Chromatogr B Analyt Technol Biomed Life Sci 2010 May 18;878(15-16):1098-102. Epub 2010 Mar 18.

Department of Metabolic and Endocrine Diseases, University Medical Centre Utrecht, WKZ and Netherlands Metabolomics Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.jchromb.2010.03.020DOI Listing
May 2010

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Turk J Pediatr 2009 Nov-Dec;51(6):587-92

Unit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2010

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.

J Pediatr 2010 Jan;156(1):121-7

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2009.07.008DOI Listing
January 2010

Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.

Eur Neuropsychopharmacol 2008 May 7;18(5):333-8. Epub 2008 Feb 7.

Department of Metabolic and Endocrine Diseases and Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.euroneuro.2007.12.002DOI Listing
May 2008

The clinical outcome of Hurler syndrome after stem cell transplantation.

Biol Blood Marrow Transplant 2008 May;14(5):485-98

Department of Immunology/Hematology and Stem Cell Transplantations, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S108387910800052
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http://dx.doi.org/10.1016/j.bbmt.2008.01.009DOI Listing
May 2008

Quantification of free and total sialic acid excretion by LC-MS/MS.

J Chromatogr B Analyt Technol Biomed Life Sci 2007 Apr 22;848(2):251-7. Epub 2006 Nov 22.

Department of Metabolic and Endocrine Diseases, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jchromb.2006.10.066DOI Listing
April 2007

D-serine in the developing human central nervous system.

Ann Neurol 2006 Oct;60(4):476-80

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

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http://dx.doi.org/10.1002/ana.20977DOI Listing
October 2006

D-amino acids in the central nervous system in health and disease.

Mol Genet Metab 2005 Jul;85(3):168-80

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

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http://dx.doi.org/10.1016/j.ymgme.2005.03.003DOI Listing
July 2005

Serine-deficiency syndromes.

Curr Opin Neurol 2004 Apr;17(2):197-204

Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.

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April 2004

L-serine in disease and development.

Biochem J 2003 May;371(Pt 3):653-61

Department of Pediatric Metabolic Diseases, University Medical Centre Utrecht, KC 03.063.0, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1042/BJ20021785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223326PMC
May 2003