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List of works by Marinus Duran

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene ⬇️

scientific article published on April 14, 2003

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

scientific journal article

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

scientific article published on 13 October 2016

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

scientific article

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 ⬇️

scientific article

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

scientific article published on 19 March 2003

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

scientific article

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

scientific article published in August 2006

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

scientific article

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

scientific journal article

Diagnosis and management of glutaric aciduria type I – revised recommendations ⬇️

scientific article published on March 23, 2011

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

scientific article published in April 2010

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

scientific article

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

scientific article published on 23 November 2010

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

scientific article published in March 2010

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

scientific article

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

scientific article published in January 2010

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

scientific article

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

scientific article

Genetic basis of hyperlysinemia

scientific article published in 2013

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

scientific article

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

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

scientific journal article

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

scientific article published on 08 January 2013

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

scientific article published on 23 October 2009

L-serine in disease and development

scientific article

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

scientific article

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

scientific article

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

scientific article

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

scientific article published on 31 March 2012

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

scientific article published on 26 June 2009

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients

scientific article published in May 2004

Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study

scientific article

Polyunsaturated Fatty Acid Concentration Predicts Myelin Integrity in Early-Phase Psychosis ⬇️

scientific article published on August 27, 2012

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

scientific article published on 18 December 2003

Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: a meta-analysis

scientific article published on 13 October 2012

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

scientific article

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

scientific article published on 8 February 2013

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

scientific article (publication date: November 2003)

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

scientific article published in April 2004

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

scientific article

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

scientific article published on 18 August 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in November 2004

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

scientific article

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