Struys E - Search Results

1

N-acetylaspartylglutamate in CNS hypomyelination.

Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI. Wamelink MM, et al. Among authors: struys e. Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3. Neuropediatrics. 2011. PMID: 21544765

2

Progress in understanding 2-hydroxyglutaric acidurias.

Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. 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.

3

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

Berends LM, Struys EA, Roos B, Holwerda U, Jansen EEW, Salomons GS, Wamelink MMC. Berends LM, et al. Among authors: struys ea. JIMD Rep. 2017;37:13-17. doi: 10.1007/8904_2017_4. Epub 2017 Feb 21. JIMD Rep. 2017. PMID: 28220408 Free PMC article.

4

Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography.

Struys EA, Jakobs C. Struys EA, et al. J Inherit Metab Dis. 1999 Jun;22(5):677-8. doi: 10.1023/a:1005558903769. J Inherit Metab Dis. 1999. PMID: 10399106 No abstract available.

5

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

Wamelink MM, Struys EA, Jakobs C. Wamelink MM, et al. Among authors: struys ea. J Inherit Metab Dis. 2008 Dec;31(6):703-17. doi: 10.1007/s10545-008-1015-6. Epub 2008 Nov 8. J Inherit Metab Dis. 2008. PMID: 18987987 Review.

6

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.

Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Wamelink MM, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):18-25. doi: 10.1016/j.jchromb.2005.01.001. Epub 2005 Jan 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16055050

7

Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation.

Struys EA, Jakobs C. Struys EA, et al. FEBS Lett. 2010 Jan 4;584(1):181-6. doi: 10.1016/j.febslet.2009.11.055. FEBS Lett. 2010. PMID: 19932104 Free article.

8

Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.

Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. Among authors: struys ea. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142

9

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. 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.

10

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.

Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. Struys EA, et al. J Pharm Biomed Anal. 1998 Dec;18(4-5):659-65. doi: 10.1016/s0731-7085(98)00280-5. J Pharm Biomed Anal. 1998. PMID: 9919967

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