Publications by authors named "Marinus Duran"

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Identification of human D lactate dehydrogenase deficiency.
Glen R Monroe, Albertien M van Eerde, Federico Tessadori, Karen J Duran, Sanne M C Savelberg, Marinus Duran

Nat Commun· April 2019

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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo, Marinus Duran

Am J Med Genet A· June 2017

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A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
Marli Dercksen, Marinus Duran, Lodewijk IJlst, Wim Kulik, Jos P N Ruiter

Mol Genet Metab· December 2016

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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
Jacob Hagen, Heleen te Brinke, Ronald J A Wanders, Alida C Knegt, Esmee Oussoren, Marinus Duran

J Inherit Metab Dis· September 2015

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Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.
Paula B M Luís, Jos Ruiter, Lodewijk IJlst, Isabel Tavares de Almeida, Marinus Duran

J Inherit Metab Dis· May 2014

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Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, Annet M Bosch, Johannes H T M Koelman, Marinus Duran

Mol Genet Metab· March 2014

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Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.
Maria Veiga-da-Cunha, Nanda M Verhoeven-Duif, Tom J de Koning, Marinus Duran, Bert Dorland

J Inherit Metab Dis· November 2013

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Saskia B Wortmann, Marinus Duran, Yair Anikster, Peter G Barth, Wolfgang Sperl

J Inherit Metab Dis· November 2013

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S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation.
Eveline E O Hagebeuk, Marinus Duran, Nico G G M Abeling, Arno Vyth, Bwee Tien Poll-The

J Inherit Metab Dis· November 2013

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Polyunsaturated fatty acid concentration predicts myelin integrity in early-phase psychosis.
Bart D Peters, Marise W J Machielsen, Wendela P Hoen, Matthan W A Caan, Anil K Malhotra, Marinus Duran

Schizophr Bull· July 2013

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Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
Sara Violante, Lodewijk Ijlst, Jos Ruiter, Janet Koster, Henk van Lenthe, Marinus Duran

Biochim Biophys Acta· June 2013

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Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: a meta-analysis.
Wendela P Hoen, Jeroen G Lijmer, Marinus Duran, Ronald J A Wanders, Nico J M van Beveren

Psychiatry Res· May 2013

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Genetic basis of hyperlysinemia.
Sander M Houten, Heleen Te Brinke, Simone Denis, Jos Pn Ruiter, Alida C Knegt, Marinus Duran

Orphanet J Rare Dis· April 2013

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Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Eugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, Lodewijk Ijlst, Marinus Duran

JIMD Rep· February 2013

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Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice.
Pedro Brites, Ana Sofia Ferreira, Tiago Ferreira da Silva, Vera F Sousa, Ana R Malheiro, Marinus Duran

PLoS One· July 2012

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Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite.
Maarten R Soeters, Mireille J Serlie, Hans P Sauerwein, Marinus Duran, Jos P Ruiter

Metabolism· July 2012

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Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
Paula B M Luís, Jos P Ruiter, Lodewijk IJlst, Luísa Diogo, Paula Garcia, Marinus Duran

J Inherit Metab Dis· May 2012

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Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.
Eveline E O Hagebeuk, Marinus Duran, Johannes H T M Koelman, Nicolaas G G M Abeling, Arno Vyth

J Child Neurol· March 2012

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Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.
Ronald J A Wanders, Marinus Duran, Ference J Loupatty

J Inherit Metab Dis· January 2012

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Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.
Paula B M Luís, Jos P Ruiter, Rob Ofman, Lodewijk Ijlst, Marco Moedas, Marinus Duran

Biochem Pharmacol· December 2011

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New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA.
Cátia C P Aires, Arno van Cruchten, Lodewijk Ijlst, Isabel Tavares de Almeida, Marinus Duran

J Hepatol· August 2011

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Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
Paula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, Isabel Tavares de Almeida, Marinus Duran

Drug Metab Dispos· July 2011

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Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients.
Eveline E O Hagebeuk, Johannes H T M Koelman, Marinus Duran, Nico G Abeling, Arno Vyth

J Child Neurol· June 2011

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Diagnosis and management of glutaric aciduria type I--revised recommendations.
Stefan Kölker, Ernst Christensen, James V Leonard, Cheryl R Greenberg, Avihu Boneh, Marinus Duran

J Inherit Metab Dis· June 2011

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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, Hennie Knoester, W Ludo van der Pol, Marinus Duran

J Inherit Metab Dis· February 2011

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