Kluijtmans LA - Search Results

1

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. Timmer NM, et al. Among authors: kluijtmans la. J Alzheimers Dis. 2014;39(1):89-101. doi: 10.3233/JAD-130437. J Alzheimers Dis. 2014. PMID: 24145381

2

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. van de Ven S, et al. J Inherit Metab Dis. 2014 May;37(3):383-90. doi: 10.1007/s10545-013-9660-9. Epub 2013 Oct 31. J Inherit Metab Dis. 2014. PMID: 24173411

3

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. Sass JO, et al. Among authors: kluijtmans la. Metab Brain Dis. 2016 Jun;31(3):587-92. doi: 10.1007/s11011-015-9778-6. Epub 2015 Dec 19. Metab Brain Dis. 2016. PMID: 26686503

4

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. Wortmann SB, et al. Among authors: kluijtmans la. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. Neurology. 2010. PMID: 20855850

5

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.

van der Put NM, van der Molen EF, Kluijtmans LA, Heil SG, Trijbels JM, Eskes TK, Van Oppenraaij-Emmerzaal D, Banerjee R, Blom HJ. van der Put NM, et al. Among authors: kluijtmans la. QJM. 1997 Aug;90(8):511-7. doi: 10.1093/qjmed/90.8.511. QJM. 1997. PMID: 9327029 Free article.

6

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. Huls M, et al. Among authors: kluijtmans la. Kidney Int. 2007 Nov;72(10):1233-41. doi: 10.1038/sj.ki.5002522. Epub 2007 Sep 12. Kidney Int. 2007. PMID: 17851469 Free article.

7

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: kluijtmans la. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

8

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA. Engelke UF, et al. Among authors: kluijtmans la. NMR Biomed. 2006 Apr;19(2):271-8. doi: 10.1002/nbm.1018. NMR Biomed. 2006. PMID: 16541463

9

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. Carrozzo R, et al. Among authors: kluijtmans la. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081

10

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. Heil SG, et al. Among authors: kluijtmans la. J Inherit Metab Dis. 2007 Oct;30(5):811. doi: 10.1007/s10545-007-0546-6. Epub 2007 Sep 4. J Inherit Metab Dis. 2007. PMID: 17768669

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