Ron A Wevers

Ron A Wevers

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Ron A Wevers

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Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients.

Int J Obes (Lond) 2019 Sep 9;43(9):1712-1723. Epub 2018 Oct 9.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41366-018-0225-8
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http://dx.doi.org/10.1038/s41366-018-0225-8DOI Listing
September 2019

Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A".

Mol Genet Metab Rep 2019 Mar 13;18:10. Epub 2018 Dec 13.

1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183013
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http://dx.doi.org/10.1016/j.ymgmr.2018.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297889PMC
March 2019

The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology.

Metabolomics 2019 Mar 27;15(4):54. Epub 2019 Mar 27.

Faculty of Natural and Agricultural Sciences, Centre for Human Metabolomics, North-West University (Potchefstroom Campus), Private Bag X6001, Potchefstroom, South Africa.

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http://dx.doi.org/10.1007/s11306-019-1513-6DOI Listing
March 2019

Movement disorders in cerebrotendinous xanthomatosis.

Parkinsonism Relat Disord 2019 01 19;58:12-16. Epub 2018 Jul 19.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.07.006DOI Listing
January 2019

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2019 01 7;92(2):e83-e95. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006731DOI Listing
January 2019

The 1H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention study.

PLoS One 2018 10;13(5):e0196850. Epub 2018 May 10.

Centre for Human Metabolomics, Faculty of Natural Sciences and Agriculture, North-West University (Potchefstroom Campus), Potchefstroom, South Africa.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0196850PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944960PMC
August 2018

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2018 07 11;41(4):641-646. Epub 2017 Sep 11.

Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0086-7DOI Listing
July 2018

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

J Inherit Metab Dis 2018 05 14;41(3):407-414. Epub 2017 Nov 14.

Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0109-4DOI Listing
May 2018

Think big - think omics.

J Inherit Metab Dis 2018 05;41(3):281-283

Dietmar-Hopp Metabolic Center, Department of General Pediatrics, University Hospital, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-018-0165-4
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http://dx.doi.org/10.1007/s10545-018-0165-4DOI Listing
May 2018

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

J Inherit Metab Dis 2018 05 19;41(3):367-377. Epub 2018 Mar 19.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0161-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959965PMC
May 2018

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

J Inherit Metab Dis 2018 05 2;41(3):435-445. Epub 2018 May 2.

BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

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http://link.springer.com/10.1007/s10545-018-0139-6
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http://dx.doi.org/10.1007/s10545-018-0139-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959954PMC
May 2018

GC-MS-based urinary organic acid profiling reveals multiple dysregulated metabolic pathways following experimental acute alcohol consumption.

Sci Rep 2018 04 10;8(1):5775. Epub 2018 Apr 10.

Centre for Human Metabolomics, Faculty of Natural Sciences and Agriculture, North-West University (Potchefstroom Campus), Private Bag, X6001, Potchefstroom, South Africa.

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http://dx.doi.org/10.1038/s41598-018-24128-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893584PMC
April 2018

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.31194
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http://dx.doi.org/10.1161/CIRCRESAHA.117.311949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924476PMC
March 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

Neuropediatrics 2017 10 15;48(5):382-384. Epub 2017 May 15.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1602833
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http://dx.doi.org/10.1055/s-0037-1602833DOI Listing
October 2017

H NMR spectral identification of medication in cerebrospinal fluid of pediatric meningitis.

J Pharm Biomed Anal 2017 Sep 25;143:56-61. Epub 2017 May 25.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpba.2017.04.054DOI Listing
September 2017

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.

Pediatr Neurol 2017 Aug 18;73:98-100. Epub 2017 Apr 18.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.007DOI Listing
August 2017

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 2017

Molecular identification in metabolomics using infrared ion spectroscopy.

Sci Rep 2017 06 13;7(1):3363. Epub 2017 Jun 13.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-017-03387-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469762PMC
June 2017

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

J Lipid Res 2017 05 17;58(5):1002-1007. Epub 2017 Mar 17.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1194/jlr.P075051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408618PMC
May 2017

A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls.

BMC Neurol 2017 May 11;17(1):88. Epub 2017 May 11.

Centre for Human Metabolomics, Faculty of Natural Sciences, North-West University (Potchefstroom Campus), Private Bag X6001, Potchefstroom, South Africa.

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http://dx.doi.org/10.1186/s12883-017-0863-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426044PMC
May 2017

Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF.

Clin Chim Acta 2016 Oct 22;461:90-7. Epub 2016 Jul 22.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboudumc, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.07.015DOI Listing
October 2016

Hydrogen cyanide emission in the lung by Staphylococcus aureus.

Eur Respir J 2016 08 26;48(2):577-9. Epub 2016 May 26.

Dept of Paediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands Dept of Paediatrics, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands Both authors contributed equally.

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http://dx.doi.org/10.1183/13993003.02093-2015DOI Listing
August 2016

Neurometabolic disorders: Five new things.

Neurol Clin Pract 2016 Aug;6(4):348-357

Department of Pediatric Neurology, Donders Centre for Brain, Cognition and Behavior (MAW), and Department of Laboratory Medicine, Translational Metabolic Laboratory (RAW), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Neuroradiology (IH), University of Heidelberg Medical Center, Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727707PMC
August 2016

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Metab Brain Dis 2016 06 19;31(3):587-92. Epub 2015 Dec 19.

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s11011-015-9778-6DOI Listing
June 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

PLoS One 2015 25;10(9):e0138622. Epub 2015 Sep 25.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583541PMC
May 2016

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Mol Genet Metab 2016 May 4;118(1):21-7. Epub 2016 Mar 4.

Centre for Molecular Medicine, Child & Family Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163002
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http://dx.doi.org/10.1016/j.ymgme.2016.03.001DOI Listing
May 2016

Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.

Acta Derm Venereol 2016 Feb;96(2):255-6

Department of Pediatrics, Radboud university medical centre (Radboudumc), PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.2340/00015555-2195DOI Listing
February 2016

Lactate and its many faces.

Eur J Paediatr Neurol 2016 Jan 9;20(1):3-10. Epub 2015 Oct 9.

Departments of Paediatric Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.09.008DOI Listing
January 2016

Towards the disease biomarker in an individual patient using statistical health monitoring.

PLoS One 2014 1;9(4):e92452. Epub 2014 Apr 1.

Radboud University Nijmegen, Institute for Molecules and Materials, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092452PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3972152PMC
December 2015

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

Transl Res 2015 Dec 8;166(6):639-649.e1. Epub 2015 Aug 8.

Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.trsl.2015.07.005DOI Listing
December 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Eur J Hum Genet 2015 Aug 4;23(8):1051-61. Epub 2015 Feb 4.

1] Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France [2] Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d'Enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2014.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795109PMC
August 2015

Quantitative measurement of immunoglobulins and free light chains using mass spectrometry.

Anal Chem 2015 Aug 28;87(16):8268-74. Epub 2015 Jul 28.

‡Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboudumc, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1021/acs.analchem.5b01263DOI Listing
August 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features.

J Clin Endocrinol Metab 2015 Mar 8;100(3):E524-30. Epub 2014 Dec 8.

Departments of Pediatrics (E.E.J.W.S., H.L.C.-v.d.G.), Laboratory Medicine (E.E.J.W.S., A.E.v.H., R.A.W., F.C.G.J.S.,), Radiation Oncology (P.N.S.), and Internal Medicine (A.R.M.M.H.), Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1210/jc.2014-2036DOI Listing
March 2015

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

J Inherit Metab Dis 2015 Jan 2;38(1):99-110. Epub 2014 Sep 2.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9759-7DOI Listing
January 2015

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Mol Genet Metab 2015 Jan 4;114(1):51-4. Epub 2014 Nov 4.

Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.10.016DOI Listing
January 2015

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

JIMD Rep 2014 23;16:1-6. Epub 2014 Apr 23.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/8904_2014_309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221300PMC
November 2014

A hypothetical astrocyte-microglia lactate shuttle derived from a H NMR metabolomics analysis of cerebrospinal fluid from a cohort of South African children with tuberculous meningitis.

Metabolomics 2015;11(4):822-837. Epub 2014 Oct 11.

Centre for Human Metabonomics, Faculty of Natural Sciences, North-West University (Potchefstroom Campus), Private Bag X6001, Potchefstroom, 2531 South Africa.

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http://dx.doi.org/10.1007/s11306-014-0741-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475545PMC
October 2014

Characterization of acute myeloid leukemia based on levels of global hydroxymethylation.

Blood 2014 Aug 1;124(7):1110-8. Epub 2014 Jul 1.

Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands;

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http://dx.doi.org/10.1182/blood-2013-08-518514DOI Listing
August 2014

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Eur J Paediatr Neurol 2014 Jul 28;18(4):511-5. Epub 2014 Feb 28.

Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.01.003DOI Listing
July 2014

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Am J Med Genet A 2014 Apr 23;164A(4):1049-55. Epub 2014 Jan 23.

Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.36392DOI Listing
April 2014

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Neurology 2013 Dec;81(24):e178-81

From the Department of Neurology (W.G.L., B.G.E., M.M.V.) and Department of Pediatric Neurology (M.A.W.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands; Department of Pediatrics (C.J.d.W.), Genetics (E.J.K.), and Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Pediatrics and Pediatric Neurology (J.K.), Children's Hospital, Aschaffenburg, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000437294.20817.99DOI Listing
December 2013

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

JAMA Neurol 2013 Nov;70(11):1440-4

Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaneurol.2013.3090DOI Listing
November 2013

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Eur J Hum Genet 2013 Aug 12;21(8):807-15. Epub 2012 Dec 12.

Department of Internal Medicine, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722672PMC
August 2013

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.

J Magn Reson Imaging 2013 Apr 10;37(4):974-80. Epub 2012 Oct 10.

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1002/jmri.23852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025321PMC
April 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.

JIMD Rep 2012 2;4:39-45. Epub 2011 Nov 2.

Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Centre for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2011_84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520506PMC
February 2013

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.

PLoS One 2012 6;7(8):e42745. Epub 2012 Aug 6.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0042745PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412827PMC
January 2013

Sjögren-Larsson syndrome in clinical practice.

J Inherit Metab Dis 2012 Nov 26;35(6):955-62. Epub 2012 Jul 26.

Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-012-9518-6DOI Listing
November 2012

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012