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List of works by Lodewijk Ijlst

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

scientific journal article

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

scientific article published on 03 July 2019

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

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

scientific article published on 13 December 2013

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

scientific article published on 9 April 2015

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

scientific article published on 19 April 2016

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

article published in 2019

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder ⬇️

scientific article published on September 9, 2013

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

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines

scientific article published on 15 January 2013

Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling

scientific article published on 9 June 2010

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

scientific article published on 20 February 2008

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

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

scientific article

Demonstration and characterization of phosphate transport in mammalian peroxisomes

scientific article published on August 2005

Demonstration of bile acid transport across the mammalian peroxisomal membrane

scientific article published on 26 March 2007

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

scientific article published on December 8, 2010

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

scientific article

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

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

scientific article published on 20 July 2006

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models

scientific article published on 4 April 2014

Identification of novel mutations in classical galactosemia

scientific article

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

scientific article published on 13 September 2005

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

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients ⬇️

scientific article published on January 1, 2002

Metabolite transport across the peroxisomal membrane

scientific article published on January 2007

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

scientific article published on 19 July 2019

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

scientific article

N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids ⬇️

scientific article published on 11 May 2015

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

scientific article published on March 31, 2012

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

scientific article published on April 9, 2012

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

scientific article published on 10 July 2013

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

scientific article published on 19 September 2012

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

scientific article published on 10 October 2017

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

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

scholarly article published on 19 January 2024

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

scientific article

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

scientific article published on 2 May 2018

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

scientific article published on October 29, 2012

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

scientific article published on 20 May 2010

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

scientific article

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

scientific article

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

scientific article

Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics

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

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase

scientific article published in April 2005

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