Publications by authors named "Marinus Duran"

77Publications

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

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

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

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

Mol Genet Metab 2014 Mar 26;111(3):404-407. Epub 2013 Sep 26.

Department of Pediatric Neurology, Clinical Genetics, Metabolic Disorders, 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.ymgme.2013.09.014DOI Listing
March 2014

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.

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

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.

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

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation.

J Inherit Metab Dis 2013 Nov 8;36(6):967-72. Epub 2013 Feb 8.

Department of Pediatric Neurology, Academic Medical Center, PO Box 22660, 1000 AZ, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-013-9590-6DOI Listing
November 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

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

J Inherit Metab Dis 2013 Nov 14;36(6):961-6. Epub 2012 Dec 14.

Laboratory of Physiological Chemistry, de Duve Institute and Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium,

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http://dx.doi.org/10.1007/s10545-012-9568-9DOI Listing
November 2013

Polyunsaturated fatty acid concentration predicts myelin integrity in early-phase psychosis.

Schizophr Bull 2013 Jul 27;39(4):830-8. Epub 2012 Aug 27.

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

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http://dx.doi.org/10.1093/schbul/sbs089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3686450PMC
July 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.

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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.

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

Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.

J Child Neurol 2012 Mar 24;27(3):304-9. Epub 2011 Aug 24.

Academic Medical Center, Department of Pediatric Neurology, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/0883073811417184DOI Listing
March 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.

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

Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients.

J Child Neurol 2011 Jun 22;26(6):718-23. Epub 2011 Mar 22.

Academical Medical Center, Department of Paediatric Neurology, Amsterdam, the Netherlands.

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http://journals.sagepub.com/doi/10.1177/0883073810390037
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http://dx.doi.org/10.1177/0883073810390037DOI Listing
June 2011

New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA.

J Hepatol 2011 Aug 13;55(2):426-34. Epub 2010 Dec 13.

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

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http://dx.doi.org/10.1016/j.jhep.2010.11.031DOI Listing
August 2011

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

J Inherit Metab Dis 2012 Jan 23;35(1):5-12. Epub 2010 Nov 23.

Head Lab 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/s10545-010-9236-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249182PMC
January 2012

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond.

Metabolism 2010 Nov 1;59(11):1543-50. Epub 2010 Mar 1.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.metabol.2010.01.024DOI Listing
November 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

[D-2-hydroxyglutaric aciduria. Report of two cases].

Invest Clin 2009 Sep;50(3):369-75

Unidad de Errores Innatos del Metabolismo (UDEIM), Centro de Biociencias y Medicina Molecular, Instituto de Estudios Avanzados-IDEA, Caracas, Venezuela.

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September 2009

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis.

Biochem Pharmacol 2010 Mar 23;79(5):792-9. Epub 2009 Oct 23.

Research Institute for Medicines and Pharmaceutical Sciences -iMED.UL, Metabolism and Genetics Group, Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.bcp.2009.10.011DOI Listing
March 2010

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

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

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

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

The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease.

Metab Brain Dis 2009 Sep 18;24(3):409-14. Epub 2009 Aug 18.

Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.

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http://dx.doi.org/10.1007/s11011-009-9155-4DOI Listing
September 2009

Effects of insulin on ketogenesis following fasting in lean and obese men.

Obesity (Silver Spring) 2009 Jul 19;17(7):1326-31. Epub 2009 Feb 19.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/oby.2008.678DOI Listing
July 2009

Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival.

BMJ Case Rep 2009 26;2009. Epub 2009 Jun 26.

Leiden University Medical Center, Pediatrics, Albinusdreef 2, Leiden, The Netherlands.

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http://dx.doi.org/10.1136/bcr.02.2009.1550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027782PMC
July 2011

Muscle acylcarnitines during short-term fasting in lean healthy men.

Clin Sci (Lond) 2009 Apr;116(7):585-92

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1042/CS20080433DOI Listing
April 2009

Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes.

FEBS Lett 2008 Oct 5;582(23-24):3359-66. Epub 2008 Sep 5.

iMED.UL, Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.febslet.2008.08.028DOI Listing
October 2008

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand.

Eur J Pediatr 2008 Aug 13;167(8):859-65. Epub 2007 Oct 13.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, P.O. Box 22660, NL-1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00431-007-0598-5DOI Listing
August 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.

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

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Mol Genet Metab 2007 Jun 26;91(2):157-64. Epub 2007 Mar 26.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.008DOI Listing
June 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.

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

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

JAMA 2006 Aug;296(8):943-52

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

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http://dx.doi.org/10.1001/jama.296.8.943DOI Listing
August 2006

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Mol Genet Metab 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

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

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http://dx.doi.org/10.1016/j.ymgme.2006.03.010DOI Listing
October 2006

High incidence of hyperoxaluria in generalized peroxisomal disorders.

Mol Genet Metab 2006 Aug 18;88(4):346-50. Epub 2006 Apr 18.

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

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http://dx.doi.org/10.1016/j.ymgme.2006.03.004DOI Listing
August 2006

Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.

J Biol Chem 2006 May 17;281(19):13180-7. Epub 2006 Mar 17.

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

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http://dx.doi.org/10.1074/jbc.M513481200DOI Listing
May 2006

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.

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

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

J Pediatr 2006 Jan;148(1):115-7

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

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http://dx.doi.org/10.1016/j.jpeds.2005.08.048DOI Listing
January 2006

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ann Neurol 2006 Jan;59(1):92-104

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

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http://dx.doi.org/10.1002/ana.20702DOI Listing
January 2006

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

Eur J Hum Genet 2005 Aug;13(8):947-52

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

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http://dx.doi.org/10.1038/sj.ejhg.5201428DOI Listing
August 2005

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.

Pediatr Res 2005 Jun 17;57(6):760-4. Epub 2005 Mar 17.

Department of General Pediatrics, University Children's Hospital, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1203/01.PDR.0000157915.26049.47DOI Listing
June 2005

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice.

J Biol Chem 2005 May 15;280(19):18658-66. Epub 2005 Mar 15.

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

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http://dx.doi.org/10.1074/jbc.M414311200DOI Listing
May 2005

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria.

Drug Metab Dispos 2004 Nov;32(11):1304-10

Department of Clinical Chemistry and Pediatrics, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1124/dmd...DOI Listing
November 2004

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.

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

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Am J Med Genet A 2004 May;126A(4):349-54

Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.20660
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http://dx.doi.org/10.1002/ajmg.a.20660DOI Listing
May 2004

Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

AJNR Am J Neuroradiol 2004 Jan;25(1):32-5

Department of Radiology, Academic Medical Center, Amsterdam, the Netherlands.

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January 2004

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

Diabetes 2004 Jan;53(1):221-7

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.2337/diabetes.53.1.221DOI Listing
January 2004

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

Clin Chem 2004 Feb 18;50(2):403-9. Epub 2003 Dec 18.

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

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http://dx.doi.org/10.1373/clinchem.2003.027169DOI Listing
February 2004

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Hum Mol Genet 2003 Sep 15;12(18):2255-67. Epub 2003 Jul 15.

Academic Medical Center, Laboratory of Genetic Metabolic Diseases F0-224, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddg236DOI Listing
September 2003

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.

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

L-serine in disease and development.

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

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

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

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.

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

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