Hans R Waterham

Hans R Waterham

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Hans R Waterham

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Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.

Biochim Biophys Acta Biomembr 2019 Oct 24;1861(10):182991. Epub 2019 May 24.

Laboratory of Lipid Biochemistry and Protein Interactions, Department of Cellular and Molecular Medicine, KU Leuven - University of Leuven, Herestraat 49, box 601, B-3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.bbamem.2019.05.013DOI Listing
October 2019

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

Hum Mutat 2019 Oct 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
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

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

J Inherit Metab Dis 2019 Sep 16;42(5):890-897. Epub 2019 May 16.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12102
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http://dx.doi.org/10.1002/jimd.12102DOI Listing
September 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

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding.

Pediatr Dev Pathol 2017 Jul-Aug;20(4):269-276. Epub 2017 Feb 6.

4 Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1177/1093526617691708DOI Listing
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

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

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

J Inherit Metab Dis 2019 Mar 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 Mar 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

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2019 Jan;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

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http://dx.doi.org/10.1002/jimd.12037DOI Listing
January 2019

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

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

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

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

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Mol Genet Metab 2017 08 17;121(4):325-328. Epub 2017 Jun 17.

Department of Medical Genetics, Oslo University Hospital, P.B 4956 Nydalen, 0424 Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.004DOI Listing
August 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

NTCP deficiency and persistently raised bile salts: an adult case.

J Inherit Metab Dis 2017 05 10;40(3):313-315. Epub 2017 Mar 10.

Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10545-017-0031-9DOI Listing
May 2017

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies.

Methods Mol Biol 2017 ;1595:63-67

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/10.1007/978-1-4939-6937-1_7DOI Listing
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

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Histochem Cell Biol 2017 Apr 24;147(4):537-541. Epub 2016 Dec 24.

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/s00418-016-1532-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359384PMC
April 2017

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 Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.

JIMD Rep 2017 13;33:49-53. Epub 2016 Aug 13.

Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Lane, M6 8HD, Salford, UK.

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http://dx.doi.org/10.1007/8904_2016_569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413453PMC
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

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

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Eur J Paediatr Neurol 2016 Mar 1;20(2):331-335. Epub 2015 Dec 1.

Department of Pediatric Neurology, Goethe University Hospital, Frankfurt, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.008DOI Listing
March 2016

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

RMD Open 2016 7;2(1):e000196. Epub 2016 Mar 7.

Faculté de Médecine, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, LabEx Transplantex, Centre de Recherche d'Immunologie et d'Hématologie, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Service de Rhumatologie, Centre National de Référence pour les Maladies Systémiques Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1136/rmdopen-2015-000196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785531PMC
March 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

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

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Genet Med 2015 Dec 2;17(12):989-94. Epub 2015 Apr 2.

Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/gim.2015.22DOI Listing
December 2015

Peroxisomal ABC transporters: functions and mechanism.

Biochem Soc Trans 2015 Oct 9;43(5):959-65. Epub 2015 Oct 9.

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

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http://dx.doi.org/10.1042/BST20150127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652930PMC
October 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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http://dx.doi.org/10.1007/s10545-015-9841-9DOI Listing
September 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

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

[Hereditary fructose intolerance].

Ned Tijdschr Geneeskd 2014 ;158:A6889

UMCU, Utrecht.

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November 2014

Unprenylated RhoA contributes to IL-1β hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity.

J Biol Chem 2014 Oct 8;289(40):27757-65. Epub 2014 Aug 8.

From Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA, Utrecht, the Netherlands and

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http://dx.doi.org/10.1074/jbc.M114.571810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183811PMC
October 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

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

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Am J Med Genet A 2013 Aug 3;161A(8):2066-73. Epub 2013 Jul 3.

Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.

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http://dx.doi.org/10.1002/ajmg.a.36019DOI Listing
August 2013

Rhizomelic chondrodysplasia punctata and cardiac pathology.

J Med Genet 2013 Jul 9;50(7):419-24. Epub 2013 Apr 9.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, PO Box 2260, Amsterdam 1100 DD, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2013-101536DOI Listing
July 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

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):263-84. Epub 2012 Oct 5.

Laboratory Genetic Metabolic Diseases (F0-222), Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31346DOI Listing
November 2012

Metabolic functions and biogenesis of peroxisomes in health and disease.

Biochim Biophys Acta 2012 Sep 7;1822(9):1325. Epub 2012 Jun 7.

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http://dx.doi.org/10.1016/j.bbadis.2012.06.001DOI Listing
September 2012

Genetics and molecular basis of human peroxisome biogenesis disorders.

Biochim Biophys Acta 2012 Sep 25;1822(9):1430-41. Epub 2012 Apr 25.

University of Amsterdam, the Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S092544391200093
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http://dx.doi.org/10.1016/j.bbadis.2012.04.006DOI Listing
September 2012

Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.

Indian Pediatr 2012 Jul;49(7):583-5

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-012-0099-0DOI Listing
July 2012

Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae.

J Biol Chem 2012 Jun 9;287(24):20144-53. Epub 2012 Apr 9.

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

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http://dx.doi.org/10.1074/jbc.M111.332833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370197PMC
June 2012

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

J Med Genet 2012 May;49(5):307-13

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

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http://dx.doi.org/10.1136/jmedgenet-2012-100778DOI Listing
May 2012

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

Am J Med Genet A 2012 Feb 2;158A(2):292-7. Epub 2011 Dec 2.

Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.34396
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http://dx.doi.org/10.1002/ajmg.a.34396DOI Listing
February 2012

Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MS.

Biochim Biophys Acta 2011 Apr 13;1811(4):227-33. Epub 2011 Jan 13.

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

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http://dx.doi.org/10.1016/j.bbalip.2011.01.002DOI Listing
April 2011

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.

Biochim Biophys Acta 2011 Mar 8;1811(3):148-52. Epub 2010 Dec 8.

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.bbalip.2010.11.010DOI Listing
March 2011

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Orphanet J Rare Dis 2011 Mar 10;6. Epub 2011 Mar 10.

Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-6-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617PMC
March 2011

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Hum Mutat 2011 Jan;32(1):59-69

Academic Medical Centre at the University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.21388DOI Listing
January 2011

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

Am J Med Genet A 2010 Nov;152A(11):2845-9

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.33677
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November 2010

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.

J Inherit Metab Dis 2010 Oct 20;33(5):479-94. Epub 2010 May 20.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946543PMC
October 2010

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

J Med Genet 2010 Sep 20;47(9):608-15. Epub 2010 Jul 20.

Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2009.074302DOI Listing
September 2010

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.

Am J Med Genet A 2010 Sep;152A(9):2318-21

Department of Pediatrics, Saad Specialist Hospital, Alkhobar, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.33560
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September 2010

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Ann Neurol 2010 Aug;68(2):259-63

Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1002/ana.22035DOI Listing
August 2010

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

J Neurol Neurosurg Psychiatry 2010 Mar;81(3):310-2

Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jnnp.2009.176255DOI Listing
March 2010