Kluijtmans L - Search Results

1

"On the Spot": The Use of Four-Dimensional Computed Tomography Angiography to Differentiate a True Spot Sign From a Distal Intracranial Aneurysm.

de Jong JP, Kluijtmans L, van Amerongen MJ, Prokop M, Boogaarts HD, Meijer FJA. de Jong JP, et al. Among authors: kluijtmans l. World Neurosurg. 2017 Sep;105:1037.e9-1037.e12. doi: 10.1016/j.wneu.2017.06.046. Epub 2017 Jun 16. World Neurosurg. 2017. PMID: 28625908

2

A robust and semi-automatic quantitative measurement of patellofemoral instability based on four dimensional computed tomography.

Chen H, Kluijtmans L, Bakker M, Dunning H, Kang Y, van de Groes S, Sprengers AMJ, Verdonschot N. Chen H, et al. Among authors: kluijtmans l. Med Eng Phys. 2020 Apr;78:29-38. doi: 10.1016/j.medengphy.2020.01.012. Epub 2020 Feb 27. Med Eng Phys. 2020. PMID: 32115353

3

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. Among authors: kluijtmans l. 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

4

Comparison of diffusion weighted imaging b0 with T2*-weighted gradient echo or susceptibility weighted imaging for intracranial hemorrhage detection after reperfusion therapy for ischemic stroke.

Luijten SPR, van der Ende NAM, Cornelissen SAP, Kluijtmans L, van Hattem A, Lycklama A Nijeholt G, Postma AA, Bokkers RPH, Thomassen L, Waje-Andreassen U, Logallo N, Bracard S, Gory B, Roozenbeek B, Dippel DWJ, van der Lugt A. Luijten SPR, et al. Among authors: kluijtmans l. Neuroradiology. 2023 Nov;65(11):1649-1655. doi: 10.1007/s00234-023-03180-3. Epub 2023 Jun 29. Neuroradiology. 2023. PMID: 37380891 Free PMC article.

5

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

6

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. NMR Biomed. 2006 Apr;19(2):271-8. doi: 10.1002/nbm.1018. NMR Biomed. 2006. PMID: 16541463

7

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. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081

8

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. 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

9

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

Koene S, Kluijtmans LAJ, Wevers R, Mock D, Pasch M, Morava E. Koene S, et al. Clin Dysmorphol. 2008 Jul;17(3):195-198. doi: 10.1097/MCD.0b013e3282fe99c4. Clin Dysmorphol. 2008. PMID: 18541968 No abstract available.

10

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. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156

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