Jos Ruiter

Jos Ruiter

UNVERIFIED PROFILE

Are you Jos Ruiter?   Register this Author

Register author
Jos Ruiter

Jos Ruiter

Publications by authors named "Jos Ruiter"

Are you Jos Ruiter?   Register this Author

52Publications

994Reads

48Profile Views

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12147DOI Listing
September 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:

View Article

Download full-text PDF

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

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Biochim Biophys Acta Mol Basis Dis 2018 11 1;1864(11):3650-3658. Epub 2018 Sep 1.

Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, Amsterdam Cardiovascular Sciences, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2018.08.041DOI Listing
November 2018

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192153002
Publisher Site
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.

View Article

Download full-text PDF

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

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Brain 2014 Nov 14;137(Pt 11):2903-8. Epub 2014 Aug 14.

1 Murdoch Childrens Research Institute, Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Vic 3052, Australia 3 Department of Paediatrics, University of Melbourne, Parkville, Vic 3052, Australia

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu216DOI Listing
November 2014

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

Biochim Biophys Acta 2013 Jun 24;1832(6):773-9. Epub 2013 Feb 24.

Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculty of Pharmacy, University of Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2013.02.012DOI Listing
June 2013

Genetic basis of hyperlysinemia.

Orphanet J Rare Dis 2013 Apr 9;8:57. Epub 2013 Apr 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626681PMC
April 2013

Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite.

Metabolism 2012 Jul 29;61(7):966-73. Epub 2011 Dec 29.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.metabol.2011.11.009DOI Listing
July 2012

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.

J Inherit Metab Dis 2012 May 22;35(3):443-9. Epub 2011 Dec 22.

Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculdade de Farmácia da Universidade de Lisboa, Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-011-9423
Web Search
http://link.springer.com/10.1007/s10545-011-9423-4
Publisher Site
http://dx.doi.org/10.1007/s10545-011-9423-4DOI Listing
May 2012

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.

Biochem Pharmacol 2011 Dec 6;82(11):1740-6. Epub 2011 Aug 6.

Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, University of Lisbon, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S000629521100648
Publisher Site
http://dx.doi.org/10.1016/j.bcp.2011.07.103DOI Listing
December 2011

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9104-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946543PMC
October 2010

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

J Inherit Metab Dis 2010 Jun 5;33(3):211-22. Epub 2010 May 5.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9086-6DOI Listing
June 2010

Mitochondrial long chain fatty acid beta-oxidation in man and mouse.

Biochim Biophys Acta 2009 Aug 22;1791(8):806-15. Epub 2009 May 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2009.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763615PMC
August 2009

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Clin Chim Acta 2009 Jun 3;404(2):95-9. Epub 2009 Mar 3.

Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T., Hong Kong.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2009.02.015DOI Listing
June 2009

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Am J Med Genet A 2008 Nov;146A(22):2925-8

Department of Pediatric Kidney-, Liver- and Metabolic Diseases, Children's Hospital Hannover Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32545DOI Listing
November 2008

Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation.

Biochim Biophys Acta 2007 Sep 10;1767(9):1126-33. Epub 2007 Jul 10.

Centro de Patogénese Molecular, Unidade de Biologia Molecular e Biopatologia Experimental, (UBMBE) Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbabio.2007.06.007DOI Listing
September 2007

Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids.

Biochim Biophys Acta 2007 Apr 23;1771(4):533-43. Epub 2007 Jan 23.

UBMBE, Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Av Prof Gama Pinto, Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S138819810700014
Publisher Site
http://dx.doi.org/10.1016/j.bbalip.2007.01.010DOI Listing
April 2007

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.

Mol Genet Metab 2007 Jan 28;90(1):24-9. Epub 2006 Aug 28.

Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases (F0-224), Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.07.006DOI Listing
January 2007

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Mol Genet Metab 2006 Mar 8;87(3):243-8. Epub 2006 Feb 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.09.019DOI Listing
March 2006

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Hum Genet 2006 Feb 30;118(6):680-90. Epub 2005 Nov 30.

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-005-0070-4DOI Listing
February 2006

Fatty acid oxidation in the human fetus: implications for fetal and adult disease.

J Inherit Metab Dis 2006 Feb;29(1):71-5

Department of Pediatrics, G8-205, Emma Children's Hospital AMC, Academic Medical Centre, PO Box 22660, NL-1100 DD, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-006-0199-xDOI Listing
February 2006

Long-chain fatty acid oxidation during early human development.

Pediatr Res 2005 Jun 21;57(6):755-9. Epub 2005 Apr 21.

Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1203/01.PDR.0000161413.42874.74DOI Listing
June 2005

Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.

Clin Chem 2004 Aug 10;50(8):1447-50. Epub 2004 Jun 10.

Academic Medical Centre, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2004.033142DOI Listing
August 2004

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Am J Hum Genet 2003 May 14;72(5):1300-7. Epub 2003 Apr 14.

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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283PMC
http://dx.doi.org/10.1086/375116DOI Listing
May 2003

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Am J Hum Genet 2002 Dec 14;71(6):1463-6. Epub 2002 Nov 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/344712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378594PMC
December 2002

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

Ann Neurol 2002 May;51(5):656-9

Metabolic Unit, University Children's Hospital, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.10169DOI Listing
May 2002

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase.

Biochem J 2002 Mar;362(Pt 3):755-60

Department of Clinical Chemistry and Paediatrics, University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1222442PMC
http://dx.doi.org/10.1042/0264-6021:3620755DOI Listing
March 2002