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Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL.

J Inherit Metab Dis. 2020 Jan 18. doi: 10.1002/jimd.12217. [Epub ahead of print]


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

Carrier DJ, van Roermund CWT, Schaedler TA, Rong HL, IJlst L, Wanders RJA, Baldwin SA, Waterham HR, Theodoulou FL, Baker A.

Sci Rep. 2019 Jul 19;9(1):10502. doi: 10.1038/s41598-019-46685-9.


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

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.

Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3.


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

Herzog K, IJlst L, van Cruchten AG, van Roermund CWT, Kulik W, Wanders RJA, Waterham HR.

Metabolites. 2019 Mar 5;9(3). pii: E45. doi: 10.3390/metabo9030045.


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

Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1.


Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH.

Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Review.


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

Shai N, Yifrach E, van Roermund CWT, Cohen N, Bibi C, IJlst L, Cavellini L, Meurisse J, Schuster R, Zada L, Mari MC, Reggiori FM, Hughes AL, Escobar-Henriques M, Cohen MM, Waterham HR, Wanders RJA, Schuldiner M, Zalckvar E.

Nat Commun. 2018 May 2;9(1):1761. doi: 10.1038/s41467-018-03957-8.


Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Knottnerus SJG, Nijmeijer SCM, IJlst L, Te Brinke H, van Vlies N, Wijburg FA.

Ann Neurol. 2017 Nov;82(5):686-696. doi: 10.1002/ana.25069. Epub 2017 Oct 26.


Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS.

Moedas MF, Adam AAA, Farelo MA, IJlst L, Chamuleau RAFM, Hoekstra R, Wanders RJA, Silva MFB.

Anal Biochem. 2017 Oct 15;535:47-55. doi: 10.1016/j.ab.2017.07.025. Epub 2017 Jul 27.


Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

Meijer OLM, Te Brinke H, Ofman R, IJlst L, Wijburg FA, van Vlies N.

Mol Genet Metab. 2017 Sep;122(1-2):100-106. doi: 10.1016/j.ymgme.2017.07.005. Epub 2017 Jul 12.


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

Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ.

Mol Genet Metab. 2016 Dec;119(4):307-310. doi: 10.1016/j.ymgme.2016.10.004. Epub 2016 Oct 13.


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

Kingma SDK, Wagemans T, IJlst L, Bronckers ALJJ, van Kuppevelt TH, Everts V, Wijburg FA, van Vlies N.

Bone. 2016 Jul;88:92-100. doi: 10.1016/j.bone.2016.01.029. Epub 2016 Apr 19.


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

Jansen RS, Addie R, Merkx R, Fish A, Mahakena S, Bleijerveld OB, Altelaar M, IJlst L, Wanders RJ, Borst P, van de Wetering K.

Proc Natl Acad Sci U S A. 2015 May 26;112(21):6601-6. doi: 10.1073/pnas.1424638112. Epub 2015 May 11.


Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model.

Kingma SD, Wagemans T, IJlst L, Seppen J, Gijbels MJ, Wijburg FA, van Vlies N.

JIMD Rep. 2015;23:77-83. doi: 10.1007/8904_2015_432. Epub 2015 Apr 9.


Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.

Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2.


Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.

Kingma SD, Wagemans T, IJlst L, Wijburg FA, van Vlies N.

J Inherit Metab Dis. 2014 Sep;37(5):813-21. doi: 10.1007/s10545-014-9703-x. Epub 2014 Apr 4.


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

van Roermund CW, Ijlst L, Wagemans T, Wanders RJ, Waterham HR.

Biochim Biophys Acta. 2014 Apr 4;1841(4):563-8. doi: 10.1016/j.bbalip.2013.12.001. Epub 2013 Dec 13.


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

Luís PB, Ruiter J, IJlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF.

J Inherit Metab Dis. 2014 May;37(3):353-7. doi: 10.1007/s10545-013-9657-4. Epub 2013 Oct 24.


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

Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR.

Orphanet J Rare Dis. 2013 Sep 9;8:138. doi: 10.1186/1750-1172-8-138.


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

Violante S, Ijlst L, Te Brinke H, Koster J, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

Biochim Biophys Acta. 2013 Sep;1831(9):1467-74. doi: 10.1016/j.bbalip.2013.06.007. Epub 2013 Jul 10.


An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, IJlst L, Wanders RJ, Wijburg FA, van Vlies N.

Orphanet J Rare Dis. 2013 Jul 9;8:99. doi: 10.1186/1750-1172-8-99.


Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.

Dercksen M, IJlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJ.

Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2510-6. doi: 10.1016/j.bbadis.2013.04.027. Epub 2013 May 2.


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

Violante S, Ijlst L, Ruiter J, Koster J, van Lenthe H, Duran M, de Almeida IT, Wanders RJ, Houten SM, Ventura FV.

Biochim Biophys Acta. 2013 Jun;1832(6):773-9. doi: 10.1016/j.bbadis.2013.02.012. Epub 2013 Feb 24.


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

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G.

JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31.


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

Violante S, Ijlst L, Te Brinke H, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

FASEB J. 2013 May;27(5):2039-44. doi: 10.1096/fj.12-216689. Epub 2013 Jan 15.


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

Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ.

Orphanet J Rare Dis. 2012 Oct 29;7:83. doi: 10.1186/1750-1172-7-83. Review.


Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

de Ruijter J, de Ru MH, Wagemans T, Ijlst L, Lund AM, Orchard PJ, Schaefer GB, Wijburg FA, van Vlies N.

Mol Genet Metab. 2012 Dec;107(4):705-10. doi: 10.1016/j.ymgme.2012.09.024. Epub 2012 Sep 28.


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.

de Ru MH, van der Tol L, van Vlies N, Bigger BW, Hollak CE, Ijlst L, Kulik W, van Lenthe H, Saif MA, Wagemans T, van der Wal WM, Wanders RJ, Wijburg FA.

J Inherit Metab Dis. 2013 Mar;36(2):247-55. doi: 10.1007/s10545-012-9538-2. Epub 2012 Sep 19.


Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

de Ruijter J, Ijlst L, Kulik W, van Lenthe H, Wagemans T, van Vlies N, Wijburg FA.

J Inherit Metab Dis. 2013 Mar;36(2):271-9. doi: 10.1007/s10545-012-9535-5. Epub 2012 Sep 12.


Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae.

van Roermund CW, Ijlst L, Majczak W, Waterham HR, Folkerts H, Wanders RJ, Hellingwerf KJ.

J Biol Chem. 2012 Jun 8;287(24):20144-53. doi: 10.1074/jbc.M111.332833. Epub 2012 Apr 9.


Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Dercksen M, Duran M, Ijlst L, Mienie LJ, Reinecke CJ, Ruiter JP, Waterham HR, Wanders RJ.

J Inherit Metab Dis. 2012 Nov;35(6):1021-9. doi: 10.1007/s10545-012-9457-2. Epub 2012 Feb 17.


Genistein in Sanfilippo disease: a randomized controlled crossover trial.

de Ruijter J, Valstar MJ, Narajczyk M, Wegrzyn G, Kulik W, Ijlst L, Wagemans T, van der Wal WM, Wijburg FA.

Ann Neurol. 2012 Jan;71(1):110-20. doi: 10.1002/ana.22643.


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

Luís PB, Ruiter JP, IJlst L, Diogo L, Garcia P, de Almeida IT, Duran M, Wanders RJ, Silva MF.

J Inherit Metab Dis. 2012 May;35(3):443-9. doi: 10.1007/s10545-011-9423-4. Epub 2011 Dec 22.


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

Luís PB, Ruiter JP, Ofman R, Ijlst L, Moedas M, Diogo L, Garcia P, de Almeida IT, Duran M, Wanders RJ, Silva MF.

Biochem Pharmacol. 2011 Dec 1;82(11):1740-6. doi: 10.1016/j.bcp.2011.07.103. Epub 2011 Aug 6.


High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.

van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA.

Neuropediatrics. 2011 Feb;42(1):13-7. doi: 10.1055/s-0031-1275342. Epub 2011 Apr 15.


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.

Luís PB, Ruiter JP, Ijlst L, Tavares de Almeida I, Duran M, Mohsen AW, Vockley J, Wanders RJ, Silva MF.

Drug Metab Dispos. 2011 Jul;39(7):1155-60. doi: 10.1124/dmd.110.037606. Epub 2011 Mar 23.


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

Aires CC, van Cruchten A, Ijlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF.

J Hepatol. 2011 Aug;55(2):426-34. doi: 10.1016/j.jhep.2010.11.031. Epub 2010 Dec 13.


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

van Roermund CW, Visser WF, Ijlst L, Waterham HR, Wanders RJ.

Biochim Biophys Acta. 2011 Mar;1811(3):148-52. doi: 10.1016/j.bbalip.2010.11.010. Epub 2010 Dec 8.


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.

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR.

J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26.


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

Violante S, Ijlst L, van Lenthe H, de Almeida IT, Wanders RJ, Ventura FV.

Biochim Biophys Acta. 2010 Sep;1802(9):728-32. doi: 10.1016/j.bbadis.2010.06.002. Epub 2010 Jun 9.


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

Wanders RJ, Ruiter JP, IJLst L, Waterham HR, Houten SM.

J Inherit Metab Dis. 2010 Oct;33(5):479-94. doi: 10.1007/s10545-010-9104-8. Epub 2010 May 20.


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

Aires CC, Ijlst L, Stet F, Prip-Buus C, de Almeida IT, Duran M, Wanders RJ, Silva MF.

Biochem Pharmacol. 2010 Mar 1;79(5):792-9. doi: 10.1016/j.bcp.2009.10.011. Epub 2009 Oct 23.


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

van Roermund CW, Visser WF, Ijlst L, van Cruchten A, Boek M, Kulik W, Waterham HR, Wanders RJ.

FASEB J. 2008 Dec;22(12):4201-8. doi: 10.1096/fj.08-110866. Epub 2008 Aug 29.


[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA.

Ned Tijdschr Geneeskd. 2008 Jul 26;152(30):1678-85. Dutch.


Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review.

Silva MF, Aires CC, Luis PB, Ruiter JP, IJlst L, Duran M, Wanders RJ, Tavares de Almeida I.

J Inherit Metab Dis. 2008 Apr;31(2):205-16. doi: 10.1007/s10545-008-0841-x. Epub 2008 Apr 4. Review.


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

Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM.

Mol Genet Metab. 2008 Apr;93(4):403-10. Epub 2008 Feb 20.


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

Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR.

Hum Mutat. 2007 Sep;28(9):904-12.


Demonstration of bile acid transport across the mammalian peroxisomal membrane.

Visser WF, van Roermund CW, Ijlst L, Waterham HR, Wanders RJ.

Biochem Biophys Res Commun. 2007 Jun 1;357(2):335-40. Epub 2007 Mar 26.


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

Aires CC, Ruiter JP, Luís PB, ten Brink HJ, Ijlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF.

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


Metabolite transport across the peroxisomal membrane.

Visser WF, van Roermund CW, Ijlst L, Waterham HR, Wanders RJ.

Biochem J. 2007 Jan 15;401(2):365-75. Review.

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