Ronald J A Wanders

Ronald J A Wanders

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Ronald J A Wanders

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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2020 Feb 18;61(1):87-91. Epub 2019 Oct 18.

Department of Pediatrics, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00523-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968987PMC
February 2020

Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism.

Biochim Biophys Acta Mol Basis Dis 2020 Feb 10;1866(5):165720. Epub 2020 Feb 10.

Department of Genetics and Genomic Sciences, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.bbadis.2020.165720DOI Listing
February 2020

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan).

J Inherit Metab Dis 2020 Jan 28. Epub 2020 Jan 28.

Department of Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12168DOI Listing
January 2020

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Hum Mutat 2019 10 3;40(10):1899-1904. Epub 2019 Jul 3.

Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism Research Institute, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790604PMC
October 2019

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Biochim Biophys Acta Mol Basis Dis 2019 Oct 15;1865(10):2774-2787. Epub 2019 Jun 15.

Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.06.013DOI Listing
October 2019

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

J Inherit Metab Dis 2019 Sep 17;42(5):878-889. Epub 2019 Jul 17.

Division 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/10.1002/jimd.12147DOI Listing
September 2019

Corrigendum to "Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function" [Biochim. Biophys. Acta, Mol. Cell Biol. Lipids 1864/5(2019) 654-661].

Biochim Biophys Acta Mol Cell Biol Lipids 2019 Aug 4;1864(8):1183. Epub 2019 May 4.

Department of Biological Sciences, Wayne State University, Detroit, MI 48202, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2019.04.014DOI Listing
August 2019

Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions.

Mitochondrion 2019 07 22;47:298-308. Epub 2019 Feb 22.

Amsterdam UMC, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, AG&M, Meibergdreef 69-71, 1105 BK Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Surgical Laboratory, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.02.005DOI Listing
July 2019

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Subcell Biochem 2018;89:345-365

Laboratory Genetic Metabolic Diseases, Departments Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/978-981-13-2233-4_15
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http://dx.doi.org/10.1007/978-981-13-2233-4_15DOI Listing
June 2019

Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.

Biochim Biophys Acta Mol Cell Biol Lipids 2019 05 5;1864(5):654-661. Epub 2019 Feb 5.

Department of Biological Sciences, Wayne State University, Detroit, MI 48202, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639082PMC
May 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

J Inherit Metab Dis 2019 03 5;42(2):197-208. Epub 2019 Feb 5.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12008DOI Listing
March 2019

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

J Inherit Metab Dis 2019 03 21;42(2):303-312. Epub 2019 Feb 21.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/jimd.12042
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http://dx.doi.org/10.1002/jimd.12042DOI Listing
March 2019

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.

Metabolites 2019 Mar 5;9(3). Epub 2019 Mar 5.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Location AMC, University of Amsterdam, 1105 Amsterdam, The Netherlands.

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http://dx.doi.org/10.3390/metabo9030045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468779PMC
March 2019

Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.

Mol Cell Probes 2018 08 10;40:60-69. Epub 2018 Feb 10.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands; Department of Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2018.02.001DOI Listing
August 2018

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

Orphanet J Rare Dis 2018 08 24;13(1):146. Epub 2018 Aug 24.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0888-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109347PMC
August 2018

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.

J Inherit Metab Dis 2018 05 28;41(3):479-487. Epub 2017 Aug 28.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0076-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959964PMC
May 2018

Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

J Inherit Metab Dis 2018 05 5;41(3):489-498. Epub 2017 Dec 5.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0114-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959966PMC
May 2018

AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configuration.

Mitochondrion 2018 03 24;39:30-42. Epub 2017 Aug 24.

Tytgat Institute for Liver and Intestinal Research, Academic Medical Center (AMC), University of Amsterdam, Postbus 22660, 1100 DD Amsterdam, The Netherlands; Surgical Laboratory, Academic Medical Center (AMC), University of Amsterdam, Postbus 22660, 1100 DD Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.08.011DOI Listing
March 2018

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Biochim Biophys Acta Mol Basis Dis 2018 Mar 26;1864(3):952-958. Epub 2017 Dec 26.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2017.12.032DOI Listing
March 2018

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Rev Endocr Metab Disord 2018 03;19(1):93-106

Dutch Fatty Acid Oxidation Expertise Center, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s11154-018-9448-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208583PMC
March 2018

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

J Pediatr Gastroenterol Nutr 2018 02;66(2):e57

Department of Pediatric Gastroenterology, Emma Children's hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000001763DOI Listing
February 2018

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.

Mol Genet Metab 2017 12 28;122(4):209-215. Epub 2017 Oct 28.

Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.012DOI Listing
December 2017

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

J Inherit Metab Dis 2017 11 4;40(6):875-881. Epub 2017 Jul 4.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0064-0DOI Listing
November 2017

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Mol Genet Metab 2017 07 6;121(3):279-282. Epub 2017 May 6.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, 1105, AZ, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.05.003DOI Listing
July 2017

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

J Med Genet 2017 05 31;54(5):330-337. Epub 2016 Oct 31.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2016-104132DOI Listing
May 2017

Identification of enzymes involved in oxidation of phenylbutyrate.

J Lipid Res 2017 05 9;58(5):955-961. Epub 2017 Mar 9.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands

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http://dx.doi.org/10.1194/jlr.M075317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408614PMC
May 2017

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Methods Mol Biol 2017 ;1595:329-342

Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6937-1_30DOI Listing
May 2017

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

PLoS One 2016 28;11(4):e0154597. Epub 2016 Apr 28.

Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0154597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849772PMC
April 2017

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 04 2;120(4):342-349. Epub 2017 Feb 2.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382105PMC
April 2017

"Role of peroxisomes in human lipid metabolism and its importance for neurological development".

Neurosci Lett 2017 01 18;637:11-17. Epub 2015 Jun 18.

Laboratory Genetic Metabolic Diseases, Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2015.06.018DOI Listing
January 2017

Ketones and inborn errors of metabolism: old friends revisited.

J Inherit Metab Dis 2017 01;40(1):3-4

Laboratory Genetic Metabolic Diseases, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9997-yDOI Listing
January 2017

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.

Annu Rev Physiol 2016 14;78:23-44. Epub 2015 Oct 14.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, University of Amsterdam, 1100 DE Amsterdam, The Netherlands; email:

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http://dx.doi.org/10.1146/annurev-physiol-021115-105045DOI Listing
December 2016

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Mol Genet Metab 2016 12 13;119(4):307-310. Epub 2016 Oct 13.

Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2016.10.004DOI Listing
December 2016

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Mov Disord 2016 11 12;31(11):1733-1739. Epub 2016 Jul 12.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/mds.26704DOI Listing
November 2016

Cholic acid therapy in Zellweger spectrum disorders.

J Inherit Metab Dis 2016 11 28;39(6):859-868. Epub 2016 Jul 28.

Department of Pediatric Neurology, Emma Children's Hospital/Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065608PMC
November 2016

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Neuropediatrics 2016 Aug 18;47(4):205-20. Epub 2016 Apr 18.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1582140DOI Listing
August 2016

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

Biochim Biophys Acta 2016 08 22;1862(8):1375-82. Epub 2016 Apr 22.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.04.012DOI Listing
August 2016

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

J Inherit Metab Dis 2016 07 4;39(4):531-43. Epub 2016 Mar 4.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9922-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920857PMC
July 2016

The Peroxisomal NAD Carrier from Arabidopsis Imports NAD in Exchange with AMP.

Plant Physiol 2016 07 2;171(3):2127-39. Epub 2016 May 2.

Laboratory Genetic Metabolic Diseases, Laboratory Division, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands (C.W.T.v.R., R.J.A.W., H.R.W.); andInstitute for Plant Biochemistry and Cluster of Excellence on Plant Sciences (CEPLAS), Heinrich Heine University, 40225 Düsseldorf, Germany (M.G.S., J.W., F.F., S.K., S.W., L.C., A.P.M.W., N.L.)

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http://dx.doi.org/10.1104/pp.16.00540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936582PMC
July 2016

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Am J Med Genet A 2016 Jun 23;170(6):1642-6. Epub 2016 Mar 23.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37628DOI Listing
June 2016

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

Mol Genet Metab 2016 06 3;118(2):123-7. Epub 2016 Apr 3.

Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Departments of Pediatrics and Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.03.009DOI Listing
June 2016

Human disorders of peroxisome metabolism and biogenesis.

Biochim Biophys Acta 2016 May 22;1863(5):922-33. Epub 2015 Nov 22.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamcr.2015.11.015DOI Listing
May 2016

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum.

Front Cell Dev Biol 2015 28;3:83. Epub 2016 Jan 28.

Laboratory Genetic Metabolic Diseases, Laboratory Division, Departments of Paediatrics and Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fcell.2015.00083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729952PMC
February 2016

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Clin Case Rep 2016 02 21;4(2):177-81. Epub 2015 Dec 21.

Department of Neurology Oslo University Hospital PO Box 4956 Nydalen Oslo N-0424 Norway; Department of Neurology Faculty of Medicine University of Oslo PO Box 1078 Blindern Oslo N-0316 Norway.

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http://dx.doi.org/10.1002/ccr3.434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736514PMC
February 2016

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

J Inherit Metab Dis 2016 Jan 25;39(1):47-58. Epub 2015 Jun 25.

INSERM UMR-1124, Université Paris Descartes, Centre Universitaire des Saints Pères, 45 rue des Saints Pères, 75006, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9871-3DOI Listing
January 2016

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

J Inherit Metab Dis 2016 Jan 19;39(1):93-106. Epub 2015 Aug 19.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre (AMC), University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9880-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710674PMC
January 2016

Zellweger spectrum disorders: clinical overview and management approach.

Orphanet J Rare Dis 2015 Dec 1;10:151. Epub 2015 Dec 1.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0368-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666198PMC
December 2015

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Mol Cell Proteomics 2015 Nov 28;14(11):3056-71. Epub 2015 Aug 28.

From the Ben May Department of Cancer Research, University of Chicago, Chicago, Illinois 60637, State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China,

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http://dx.doi.org/10.1074/mcp.M115.048850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4638046PMC
November 2015

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

J Inherit Metab Dis 2015 Sep 10;38(5):873-9. Epub 2015 Apr 10.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY, 10029, USA.

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http://link.springer.com/10.1007/s10545-015-9841-9
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September 2015

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Mol Genet Metab 2015 Aug 24;115(4):168-73. Epub 2015 Jun 24.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne Australia; Department of Paediatrics, University of Melbourne, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153002
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http://dx.doi.org/10.1016/j.ymgme.2015.06.008DOI Listing
August 2015

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
June 2015

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Brain 2015 Feb 22;138(Pt 2):e326. Epub 2014 Aug 22.

2 Department of Paediatric Neurology/Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 4 Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://brain.oxfordjournals.org/content/brain/early/2014/09/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu233DOI Listing
February 2015

Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.

Biochim Biophys Acta 2015 Feb 11;1851(2):231-7. Epub 2014 Dec 11.

Genetic Metabolic Diseases, Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbalip.2014.12.005DOI Listing
February 2015

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Am J Med Genet A 2015 Jan 22;167A(1):211-4. Epub 2014 Oct 22.

Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

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http://doi.wiley.com/10.1002/ajmg.a.36803
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http://dx.doi.org/10.1002/ajmg.a.36803DOI 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

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.

J Inherit Metab Dis 2014 Sep 15;37(5):709-14. Epub 2014 Feb 15.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9684-9DOI Listing
September 2014

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Hum Mol Genet 2014 Sep 8;23(18):5009-16. Epub 2014 May 8.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital.

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http://dx.doi.org/10.1093/hmg/ddu218DOI Listing
September 2014

Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction.

Subcell Biochem 2013 ;69:23-44

Laboratory Genetic Metabolic Diseases, Room F0-226, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/978-94-007-6889-5_2DOI Listing
August 2014

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Hum Mol Genet 2014 Jul 10;23(13):3513-22. Epub 2014 Feb 10.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry and Department of Pediatrics, Emma's Children Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands

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http://dx.doi.org/10.1093/hmg/ddu059DOI Listing
July 2014

Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.

FASEB J 2014 Jul 19;28(7):2891-900. Epub 2014 Mar 19.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, and Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; and Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA

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http://dx.doi.org/10.1096/fj.14-250241DOI Listing
July 2014

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

J Inherit Metab Dis 2014 May 24;37(3):353-7. Epub 2013 Oct 24.

Research Institute for Medicines and Pharmaceutical Sciences - iMED.UL, Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.

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http://dx.doi.org/10.1007/s10545-013-9657-4DOI Listing
May 2014

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

Biochim Biophys Acta 2014 Apr 13;1841(4):563-8. Epub 2013 Dec 13.

Laboratory Genetic Metabolic Diseases, Depts. of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbalip.2013.12.001DOI Listing
April 2014

Metabolic functions of peroxisomes in health and disease.

Biochimie 2014 Mar 3;98:36-44. Epub 2013 Sep 3.

University of Amsterdam, Academic Medical Center, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Laboratory Genetic Metabolic Diseases, Room F0-226, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2013.08.022DOI Listing
March 2014

Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase.

FASEB J 2014 Mar 16;28(3):1365-74. Epub 2013 Dec 16.

1Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mt. Sinai, 1425 Madison Ave., Box 1498, New York, NY 10029, USA.

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http://dx.doi.org/10.1096/fj.13-240416DOI Listing
March 2014

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

From Metabolics and Newborn Screening (M.A.L.), University of Ottawa, Children's Hospital of Eastern Ontario; Clinical and Metabolic Genetics (R.J.), and The Centre for Applied Genomics and Program in Genetics and Genome Biology (C.R.M., S.W.S.), The Hospital for Sick Children, Toronto; Neuromuscular and Neuorometabolic Disorders (L.B., M.A.T.), and Department of Ophthalmology (A.R.R.), McMaster University, Hamilton; Department of Molecular Genetics, McLaughlin Centre (C.R.M., S.W.S.), and Division of Neurology, Sunnybrook Health Sciences Centre (L.L.), University of Toronto; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease (A.E.L., T.A.M.), Toronto Western Hospital, Canada; and Laboratory Genetic Metabolic Diseases (R.J.A.W., S.F.), Academic Medical Center, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

The regulation of catalase activity by PPAR γ is affected by α-synuclein.

Ann Clin Transl Neurol 2014 Mar 17;1(3):145-59. Epub 2014 Feb 17.

Biochemistry and Molecular Biology, IMRIC, Faculty of Medicine, The Hebrew University Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1002/acn3.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184544PMC
March 2014

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.

Stem Cell Res 2013 Sep 28;11(2):806-19. Epub 2013 May 28.

Department of Biochemistry II, University Medical Center Göttingen, Humboldtallee 23, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.scr.2013.05.005DOI Listing
September 2013

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.

Biochim Biophys Acta 2013 Sep 10;1831(9):1467-74. Epub 2013 Jul 10.

Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.bbalip.2013.06.007DOI Listing
September 2013

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Orphanet J Rare Dis 2013 Sep 9;8:138. Epub 2013 Sep 9.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844471PMC
September 2013