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Items: 1 to 50 of 101

1.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A.

Neurology. 2019 Jan 8;92(2):e83-e95. doi: 10.1212/WNL.0000000000006731. Epub 2018 Dec 7.

PMID:
30530799
2.

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

Graham E, Lee J, Price M, Tarailo-Graovac M, Matthews A, Engelke U, Tang J, Kluijtmans LAJ, Wevers RA, Wasserman WW, van Karnebeek CDM, Mostafavi S.

J Inherit Metab Dis. 2018 May;41(3):435-445. doi: 10.1007/s10545-018-0139-6. Epub 2018 May 2.

3.

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

Martens J, Berden G, Bentlage H, Coene KLM, Engelke UF, Wishart D, van Scherpenzeel M, Kluijtmans LAJ, Wevers RA, Oomens J.

J Inherit Metab Dis. 2018 May;41(3):367-377. doi: 10.1007/s10545-018-0161-8. Epub 2018 Mar 19.

4.

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA.

J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16.

5.

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.

Körver-Keularts IMLW, Wang P, Waterval HWAH, Kluijtmans LAJ, Wevers RA, Langhans CD, Scott C, Habets DDJ, Bierau J.

J Inherit Metab Dis. 2018 May;41(3):415-424. doi: 10.1007/s10545-017-0129-0. Epub 2018 Feb 12.

6.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

7.

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

Václavík J, Coene KLM, Vrobel I, Najdekr L, Friedecký D, Karlíková R, Mádrová L, Petsalo A, Engelke UFH, van Wegberg A, Kluijtmans LAJ, Adam T, Wevers RA.

J Inherit Metab Dis. 2018 May;41(3):407-414. doi: 10.1007/s10545-017-0109-4. Epub 2017 Nov 14.

PMID:
29139026
8.

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A.

J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.

PMID:
28894950
9.

Molecular identification in metabolomics using infrared ion spectroscopy.

Martens J, Berden G, van Outersterp RE, Kluijtmans LAJ, Engelke UF, van Karnebeek CDM, Wevers RA, Oomens J.

Sci Rep. 2017 Jun 13;7(1):3363. doi: 10.1038/s41598-017-03387-4.

10.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
11.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors.

J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15.

12.

Detection of Staphylococcus aureus in cystic fibrosis patients using breath VOC profiles.

Neerincx AH, Geurts BP, van Loon J, Tiemes V, Jansen JJ, Harren FJ, Kluijtmans LA, Merkus PJ, Cristescu SM, Buydens LM, Wevers RA.

J Breath Res. 2016 Nov 30;10(4):046014.

PMID:
27902490
13.

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

Heiner-Fokkema MR, Vaz FM, Maatman R, Kluijtmans LA, van Spronsen FJ, Reijngoud DJ.

JIMD Rep. 2017;32:33-39. doi: 10.1007/8904_2016_564. Epub 2016 Jun 14.

14.

Hydrogen cyanide emission in the lung by Staphylococcus aureus.

Neerincx AH, Linders YA, Vermeulen L, Belderbos RA, Mandon J, van Mastrigt E, Pijnenburg MW, van Ingen J, Mouton JW, Kluijtmans LA, Wevers RA, Harren FJ, Cristescu SM, Merkus PJ.

Eur Respir J. 2016 Aug;48(2):577-9. doi: 10.1183/13993003.02093-2015. Epub 2016 May 26. No abstract available.

15.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

16.

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

van de Logt AE, Kluijtmans LA, Huigen MC, Janssen MC.

JIMD Rep. 2017;31:95-99. doi: 10.1007/8904_2016_565. Epub 2016 May 5.

17.

Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinations.

Neerincx AH, Geurts BP, Habets MF, Booij JA, van Loon J, Jansen JJ, Buydens LM, van Ingen J, Mouton JW, Harren FJ, Wevers RA, Merkus PJ, Cristescu SM, Kluijtmans LA.

J Breath Res. 2016 Jan 29;10(1):016002. doi: 10.1088/1752-7155/10/1/016002.

PMID:
26824272
18.

Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon.

Kortman GA, Dutilh BE, Maathuis AJ, Engelke UF, Boekhorst J, Keegan KP, Nielsen FG, Betley J, Weir JC, Kingsbury Z, Kluijtmans LA, Swinkels DW, Venema K, Tjalsma H.

Front Microbiol. 2016 Jan 6;6:1481. doi: 10.3389/fmicb.2015.01481. eCollection 2015.

19.

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA.

Metab Brain Dis. 2016 Jun;31(3):587-92. doi: 10.1007/s11011-015-9778-6. Epub 2015 Dec 19.

PMID:
26686503
20.

Urinary excretion of polyols and sugars in children with chronic kidney disease.

Vanlede K, Kluijtmans LA, Monnens L, Levtchenko E.

Pediatr Nephrol. 2015 Sep;30(9):1537-40. doi: 10.1007/s00467-015-3135-1. Epub 2015 Jun 9.

PMID:
26054712
21.

Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene.

Molenaar JP, Voermans NC, van Hoeve BJ, Kamsteeg EJ, Kluijtmans LA, Kusters B, Jungbluth HJ, van Engelen BG.

Intern Med J. 2014 Aug;44(8):819-20. doi: 10.1111/imj.12498. No abstract available.

PMID:
25081049
22.

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

Wortmann SB, Kluijtmans LA, Sequeira S, Wevers RA, Morava E.

JIMD Rep. 2014;16:1-6. doi: 10.1007/8904_2014_309. Epub 2014 Apr 23.

23.

New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs.

Vlaardingerbroek H, Ng K, Stoll B, Benight N, Chacko S, Kluijtmans LA, Kulik W, Squires EJ, Olutoye O, Schady D, Finegold ML, van Goudoever JB, Burrin DG.

J Lipid Res. 2014 Mar;55(3):466-77. doi: 10.1194/jlr.M044545. Epub 2014 Jan 29.

24.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ.

J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7.

25.

Cerebral level of vGlut1 is increased and level of glycine is decreased in TgSwDI mice.

Timmer NM, Metaxas A, van der Stelt I, Kluijtmans LA, van Berckel BN, Verbeek MM.

J Alzheimers Dis. 2014;39(1):89-101. doi: 10.3233/JAD-130437.

PMID:
24145381
26.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ.

J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23.

PMID:
23974653
27.

Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.

de Boer L, Kluijtmans LA, Morava E.

JIMD Rep. 2013;10:39-40. doi: 10.1007/8904_2012_198. Epub 2012 Dec 29.

28.

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6. Epub 2013 Jan 25.

PMID:
23355087
29.

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

Smith DE, Mendes MI, Kluijtmans LA, Janssen MC, Smulders YM, Blom HJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Dec 12;911:186-91. doi: 10.1016/j.jchromb.2012.10.041. Epub 2012 Nov 3.

PMID:
23217323
30.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP.

Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.

PMID:
22683713
31.

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.

Rocha MS, Teerlink T, Janssen MC, Kluijtmans LA, Smulders Y, Jakobs C, Tavares de Almeida I, Rivera I, Castro R, Blom HJ.

Atherosclerosis. 2012 Jun;222(2):509-11. doi: 10.1016/j.atherosclerosis.2012.03.009. Epub 2012 Mar 24.

PMID:
22484094
32.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H.

Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3.

PMID:
21820356
33.

Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells.

Wilmer MJ, Kluijtmans LA, van der Velden TJ, Willems PH, Scheffer PG, Masereeuw R, Monnens LA, van den Heuvel LP, Levtchenko EN.

Biochim Biophys Acta. 2011 Jun;1812(6):643-51. doi: 10.1016/j.bbadis.2011.02.010. Epub 2011 Feb 28.

34.

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

Wallon D, Guyant-Maréchal L, Laquerrière A, Wevers RA, Martinaud O, Kluijtmans LA, Yntema HG, Saugier-Veber P, Hannequin D.

Clin Neuropathol. 2010 Nov-Dec;29(6):361-4.

PMID:
21073839
35.

The 3-methylglutaconic acidurias: what's new?

Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E.

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review.

36.

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA.

Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.

PMID:
20855850
37.

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Krijt J, Kopecká J, Hnízda A, Moat S, Kluijtmans LA, Mayne P, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):49-55. doi: 10.1007/s10545-010-9178-3. Epub 2010 Sep 7.

38.

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA.

Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18.

39.

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA.

Mitochondrion. 2009 Nov;9(6):438-42. doi: 10.1016/j.mito.2009.08.003. Epub 2009 Aug 8.

PMID:
19666145
40.

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, Wevers RA.

NMR Biomed. 2009 Jun;22(5):538-44. doi: 10.1002/nbm.1367.

PMID:
19288536
41.

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E.

Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16.

PMID:
19015156
42.

Alcohol increases homocysteine and reduces B vitamin concentration in healthy male volunteers--a randomized, crossover intervention study.

Gibson A, Woodside JV, Young IS, Sharpe PC, Mercer C, Patterson CC, McKinley MC, Kluijtmans LA, Whitehead AS, Evans A.

QJM. 2008 Nov;101(11):881-7. doi: 10.1093/qjmed/hcn112. Epub 2008 Sep 12.

43.

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

Koene S, Kluijtmans LA, Wevers R, Mock D, Pasch M, Morava E.

Clin Dysmorphol. 2008 Jul;17(3):195-8. doi: 10.1097/MCD.0b013e3282fe99c4. No abstract available.

PMID:
18541968
44.

Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosis.

Moviat M, Terpstra AM, Ruitenbeek W, Kluijtmans LA, Pickkers P, van der Hoeven JG.

Crit Care Med. 2008 Mar;36(3):752-8. doi: 10.1097/CCM.0B013E31816443CB.

PMID:
18176310
45.

P-glycoprotein-deficient mice have proximal tubule dysfunction but are protected against ischemic renal injury.

Huls M, Kramers C, Levtchenko EN, Wilmer MJ, Dijkman HB, Kluijtmans LA, van der Hoorn JW, Russel FG, Masereeuw R.

Kidney Int. 2007 Nov;72(10):1233-41. Epub 2007 Sep 12.

46.

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.

J Inherit Metab Dis. 2007 Oct;30(5):811. Epub 2007 Sep 4.

PMID:
17768669
47.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.

Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14.

PMID:
17301081
48.

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.

Hum Mutat. 2007 Mar;28(3):255-64.

49.

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida.

van der Linden IJ, den Heijer M, Afman LA, Gellekink H, Vermeulen SH, Kluijtmans LA, Blom HJ.

J Mol Med (Berl). 2006 Dec;84(12):1047-54. Epub 2006 Oct 6.

PMID:
17024475
50.

Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta.

Heil SG, Kluijtmans LA, De Vriese AS, Pfundt R, Blom HJ.

Atherosclerosis. 2007 Aug;193(2):452-4. Epub 2006 Sep 18. No abstract available.

PMID:
16982062

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