Struys EA - Search Results

1

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Among authors: struys ea. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378

2

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Struys EA, et al. Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17. Am J Hum Genet. 2005. PMID: 15609246 Free PMC article.

3

Progress in understanding 2-hydroxyglutaric acidurias.

Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. Among authors: struys ea. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.

4

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

Struys EA, Gibson KM, Jakobs C. Struys EA, et al. J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876720

5

Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.

Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA. Wickenhagen WV, et al. Among authors: struys ea. J Inherit Metab Dis. 2009 Apr;32(2):264-8. doi: 10.1007/s10545-009-1104-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19283509

6

Struys EA, Verhoeven NM, Roos B, Jakobs C. Struys EA, et al. Clin Chem. 2003 Jul;49(7):1133-8. doi: 10.1373/49.7.1133. Clin Chem. 2003. PMID: 12816910

7

Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria.

Struys EA, Verhoeven NM, Brunengraber H, Jakobs C. Struys EA, et al. FEBS Lett. 2004 Jan 16;557(1-3):115-20. doi: 10.1016/s0014-5793(03)01459-5. FEBS Lett. 2004. PMID: 14741351 Free article.

8

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: struys ea. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988808 Free PMC article.

9

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Struys EA, et al. Ann Neurol. 2005 Oct;58(4):626-30. doi: 10.1002/ana.20559. Ann Neurol. 2005. PMID: 16037974

10

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW. Misra VK, et al. Among authors: struys ea. Mol Genet Metab. 2005 Sep-Oct;86(1-2):200-5. doi: 10.1016/j.ymgme.2005.06.005. Epub 2005 Aug 2. Mol Genet Metab. 2005. PMID: 16081310

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